Hypoparathyroidism pathophysiology: Difference between revisions

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Latest revision as of 22:18, 29 July 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

Hypoparathyroidism is a decrease in serum parathyroid hormone. Normally, parathyroid hormone increases serum calcium and magnesium concentration, and decreases serum phosphate concentration. Secretion of parathyroid hormone from parathyroid gland is stimulated by low serum calcium. Parathyroid glands have calcium-sensing receptors responsible for sensing extracellular ionized calcium. Calcium and magnesium provides a negative feedback for secretion of parathyroid hormone. Deficiency of parathyroid hormone causes body to decrease reabsorption of calcium from bone, excretion of phosphate, reabsorbtion of calcium from distal tubules, and vitamin D mediated absorption of calcium from intestine leading to hypocalcemia. Many genetic conditions are associated with hypoparathyroidism. Hypoparathyroidism associated with genetic defects may be either autoimmune hypoparathyroidism, isolated hypoparathyroidism, associated with congenital multisystem syndromes, or a part of metabolic disorders.

Pathophysiology

Parathyroid, Vitamin D, and Mineral Homeostasis

The effect of parathyroid hormone on mineral metabolism is as follows:^[1]^[2]

Effect of parathyroid hormone on inorganic phosphate metabolism:
- Increases excretion of inorganic phosphate from kidney resulting in decreased serum concentration of phosphate.
Effect on parathyroid hormone on calcium metabolism:
- Direct effect:
  - Increased resorption of bones.
  - Decreases excretion from kidney.
- Indirect effect:
  - Increases conversion of inactive 25-hydroxy vitamin D to the active 1,25-dihydroxy vitamin D which increases absorption of calcium from gut. Decreased phosphate concentration also increases this conversion process. Vitamin D shows synergism with parathyroid hormone action on bone.
  - Decreased serum inorganic phosphate concentration prevents precipitation of calcium phosphate in bones.
- Both these direct and indirect mechanism results in an increased serum calcium concentration.
Effect of parathyroid hormone on magnesium concentration:
- Decreases excretion of magnesium resulting in increased serum magnesium concentretion.

Effect of minerals and vitamin D on parathyroid hormone:

Decrease in serum calcium concentration stimulates parathyroid hormone.
Calcium provides negative feedback on parathyroid hormone.
Magnesium provides negative feedback on parathyroid hormone.
Vitamin D decreases the concentration of parathyroid hormone.

The Sequence of Events in Parathyroid, Vitamin D, and Mineral Homeostasis

Parathyroid hormone

Kidney

Bone

Decreased excretion of magnesium

Increasead conversion of inactive 25-hydroyx vitamin D to the active 1,25-dihydroy xvitamin D

Increase excretion of inorganic phosphate

Decrease excretion of calcium

Increased resorption of bone

Increased serum concentration of magnesium

Increased absorption of calcium from gut

Decreased serum concentration of inorganic phosphate

Prevents precipitation of calcium phosphate in bones

Increased serum concentration of calcium

Calcium-sensing receptors

Calcium-sensing receptors are present on parathyroid glands. They are a type of 7-transmembrane receptors in G-protein coupled receptors superfamily of receptors.^[3]
Calcium-sensing receptors sense change in extracellular concentration of ionized calcium.^[4]

Pathogenesis

There is deficiency of parathyroid hormone in hypoparathyroidism.
Deficiency of parathyroid hormone causes body to decrease:
- Reabsorption of calcium from bone.
- Excretion of phosphate.
- Reabsorbtion of calcium from distal tubules.
- Vitamin D mediated absorption of calcium from intestine.
This leads to hypocalcemia.

Hypoparathyroidism

Deficiency of parathyroid hormone

Decrease reabsorption of calcium from bone

Decrease excretion of phosphate

Decrease reabsorbtion of calcium from distal tubules

Decrease vitamin D mediated absorption of calcium from intestine

Post-surgical Hypoparathyroidism

Anterior neck surgery most commonly causes hypoparathyroidism. Majority of time this hypoparathyroidism is transient i.e. it resolves within 6 months.^[5]^[6]^[7]
The features of hypoparathyroidism should persist for atleast 6 month after surgery to be diagnosed as chronic hypoparathyroidism.
30–60% Patients undergoing total thyroidectomy develops hypocalcaemia within 24 hours as an initial manifestation of postoperative parathyroid failure. About 60%-70% of these cases resolve within 4–6 weeks after surgery. Remaining cases progress to develop protracted hypoparathyroidism requiring continuous treatment. Around 15–25% of patients with protracted hypoparathyroidism progress to chronic hypoparathyroidism.^[8]
Factors favorring recovery from protracted hypoparathyroidism include:
- Number of parathyroid glands remaining in situ.
- Serum calcium level at this stage : There is high rate of recovery in individuals whose calcium levels are normal to elevated one month postoperatively.

Genetics

Genetics of Hypoparathyroidism
Hypoparathyroidism				Inheritance	Gene mutation	Clinical features
Autoimmune		Autoimmune polyglandular hypoparathyroidism	Autoimmune polyendocrine syndrome type 1^[9]	Autosomal recessive	Mutation in AIRE gene	Also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) Presents with a variable combination of: Failure of the parathyroid glands, adrenal cortex, gonads, pancreatic beta cells, gastric parietal cells, thyroid gland, and hepatitis Chronic mucocutaneous candidiasis Dystrophy of dental enamel and nails, alopecia, vitiligo, and keratopathy
Isolated		Familial Isolated hypoparathyroidism		Autosomal dominant	PTH gene^[10]	Clinical features of hypocalcemia including: Tetany (hallmark of acute hypocalcemia) Paresthesia in fingertips, toes, and perioral area Carpopedal spasms Circumoral numbness
				Autosomal dominant	Glial cells missing GCM2 gene^[11]	Clinical features of hypocalcemia including: Tetany (hallmark of acute hypocalcemia) Paresthesia in fingertips, toes, and perioral area Carpopedal spasms Circumoral numbness Dominant negative mutation
				Autosomal recessive	PTH gene^[12]	Clinical features of hypocalcemia including: Tetany (hallmark of acute hypocalcemia) Paresthesia in fingertips, toes, and perioral area Carpopedal spasms Circumoral numbness
				Autosomal recessive	Glial cells missing 2 (GCM2) gene^[11]^[13]	Clinical features of hypocalcemia including: Tetany (hallmark of acute hypocalcemia) Paresthesia in fingertips, toes, and perioral area Carpopedal spasms Circumoral numbness
				X-linked	FHL1 gene (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27^[14]	Clinical features of hypocalcemia including: Tetany (hallmark of acute hypocalcemia) Paresthesia in fingertips, toes, and perioral area Carpopedal spasms Circumoral numbness
		Autosomal dominant hypercalcemia^[15]	Autosomal dominant hypocalcemia type 1	Autosomal dominant	Calcium-sensing receptor gene mutation	Calcium-sensing receptor gene activating mutation Most common genetic form of hypoparathyroidism Also known as familial hypercalciuric hypocalcemia The activating mutation results in gain in function NOTE: Calcium-sensing receptor gene activating mutation can also cause mild Bartter syndrome type 5. This mutation cause the inhibition of apical potassium channel in the thick ascending limb of the loop of Henle in the kidney.^[16]^[17]
		Autosomal dominant hypercalcemia^[15]	Autosomal dominant hypocalcemia type 2	Autosomal dominant	G protein G11 (GNA11) mutation	Clinical features of hypocalcemia including: Tetany (hallmark of acute hypocalcemia) Paresthesia in fingertips, toes, and perioral area Carpopedal spasms Circumoral numbness
Congenital multisystem syndromes		DiGeorge syndrome^[18]		Autosomal dominant	22q11.2 deletion	Presents with: Thymus dysfunction Cardiac defects Immunodeficiency Hypocalcemia Other clinical problems Also known as: 22q11.2DS or deletion 22q11.2 syndrome CATCH 22 syndrome Cayler cardiofacial syndrome Conotruncal anomaly face syndrome (CTAF) Sedlackova syndrome Shprintzen syndrome VCFS or velocardiofacial syndrome or velo-cardio-facial syndrome CATCH 22 stands for: Cardiac defects Abnormal facies Thymic aplasia Cleft palate Hypocalcemia with 22q11.2 deletion
		CHARGE syndrome^[19]		Autosomal dominant	CHD7 G744S missense mutation	Presents with: Coloboma Cardiac defects Atresia choanae Retarded growth and development Genitourinary abnormalities Ear anomalies and/or deafness
		Kenny-Caffey syndrome type 1^[20]		Autosomal recessive	Deletion of the TBCE gene	Presents with hypoparathyroidism due to: Absent parathyroid tissue Growth retardation Medullary stenosis of tubular bones
		Kenny-Caffey syndrome type 2^[21]		Autosomal dominant	Mutation of “family with sequence similarity 111, member A″ (FAM111A) gene located on chromosome locus 11q12.1	Similar clinical features as Kenny-Caffey syndrome type 1 Except for mental retardation
		Sanjad-Sakati syndrome^[22]		Autosomal recessive	Mutation in TBCE gene	Exclusively found in arabian descent population Presents with: Hypoparathyroidism Intellectual disability Dysmorphism
		Barakat syndrome^[23]^[24]		Autosomal recessive	Mutations in the GATA3 gene	Also known as hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. Presents with: Primary hypoparathyroidism Nerve deafness Steroid-resistant nephrosis
Metabolic diseases	Mitochondiral polyneuropathies^[25]	Kearns–Sayre syndrome		Mitochondrial inheritence	mtDNA deletion	Presents with: Progressive external ophthalmoplegia Retinitis pigmentosa Cardiomyopathy Heart block
	Mitochondiral polyneuropathies^[25]	Maternally inherited diabetes and deafness (MIDD)		Mitochondrial inheritence	MT‑TL1 defect	Presents with: Diabetes mellitus Deafness
	Mitochondrial enzyme deficiencies	Mitochondrial trifunctional protein deficiency (MTP deficiency)^[26]^[27]		Autosomal recessive	HADHA or HADHB gene mutation	Clinical features of mitochondrial trifunctional protein deficiency occurring: During infancy include: Feeding difficulties Lethargy Hypoglycemia Hypotonia Liver problems After infancy include: Hypotonia Muscle pain Breakdown of muscle tissue Peripheral neuropathy Infants with mitochondrial trifunctional protein deficiency are also at increased risk for: Serious heart problems Breathing difficulties Coma Sudden death
	Mitochondrial enzyme deficiencies	Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)^[28]		Autosomal recessive	G1528C gene mutation	Clinical features of LCHAD deficiency include: Hypoglycemia Hepatopathy Hypotonia Cardiomyopathy Retinopathy
	Heavy metal storage disorders	Hemochromatosis^[29]^[30]		Autosomal recessive	HFE gene mutation	Early symptoms of hereditary hemochromatosis are nonspecific and may include: Fatigue Joint pain Abdominal pain Decreased libido Late stage clinical features may include: Arthritis Liver disease Diabetes Heart abnormalities Skin discoloration
	Heavy metal storage disorders	Wilson's disease^[31]^[32]		Autosomal recessive	ATP7B gene mutation	Clinical features of Wilson's disease include: Initial feature Children and young adults:Liver disease Adults: Nervous system disorders and psychiatric disorders Other clinical features include: Clumsiness Tremors Difficulty walking Speech problems Impaired thinking ability Depression Anxiety Mood swings

Associated Conditions

Conditions associated with hypoparathyroidism include:^[9]^[15]^[16]^[17]^[18]^[19]^[20]^[21]^[22]^[23]^[24]^[25]^[26]^[28]^[29]^[31]

Autoimmune polyendocrine syndrome type 1
Autosomal dominant hypocalcemia type 1
Autosomal dominant hypocalcemia type 2
Bartter syndrome type 5
DiGeorge syndrome
CHARGE syndrome
Kenny-Caffey syndrome type 1
Kenny-Caffey syndrome type 2
Sanjad-Sakati syndrome
Barakat syndrome
Kearns–Sayre syndrome
Maternally inherited diabetes and deafness (MIDD)
Mitochondrial trifunctional protein deficiency (MTP deficiency)
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)
Hemochromatosis
Wilson's disease

Gross Pathology

There is no gross pathology findings for hypoparathyroidism.

Microscopic Pathology

There is no microscopic pathology findings for hypoparathyroidism.

References

↑ HARRISON MT (1964). "INTERRELATIONSHIPS OF VITAMIN D AND PARATHYROID HORMONE IN CALCIUM HOMEOSTASIS". Postgrad Med J. 40: 497–505. PMC 2482768. PMID 14184232.
↑ Nussey, Stephen (2001). Endocrinology : an integrated approach. Oxford, UK Bethesda, Md: Bios NCBI. ISBN 1-85996-252-1.
↑ Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O; et al. (1993). "Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid". Nature. 366 (6455): 575–80. doi:10.1038/366575a0. PMID 8255296.
↑ Brown EM, Pollak M, Seidman CE, Seidman JG, Chou YH, Riccardi D; et al. (1995). "Calcium-ion-sensing cell-surface receptors". N Engl J Med. 333 (4): 234–40. doi:10.1056/NEJM199507273330407. PMID 7791841.
↑ Bilezikian JP, Khan A, Potts JT, Brandi ML, Clarke BL, Shoback D, Jüppner H, D'Amour P, Fox J, Rejnmark L, Mosekilde L, Rubin MR, Dempster D, Gafni R, Collins MT, Sliney J, Sanders J (2011). "Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research". J. Bone Miner. Res. 26 (10): 2317–37. doi:10.1002/jbmr.483. PMC 3405491. PMID 21812031.
↑ Ritter K, Elfenbein D, Schneider DF, Chen H, Sippel RS (2015). "Hypoparathyroidism after total thyroidectomy: incidence and resolution". J. Surg. Res. 197 (2): 348–53. doi:10.1016/j.jss.2015.04.059. PMC 4466142. PMID 25982044.
↑ Sturniolo G, Lo Schiavo MG, Tonante A, D'Alia C, Bonanno L (2000). "Hypocalcemia and hypoparathyroidism after total thyroidectomy: a clinical biological study and surgical considerations". Int. J. Surg. Investig. 2 (2): 99–105. PMID 12678507.
↑ Bollerslev J, Rejnmark L, Marcocci C, Shoback DM, Sitges-Serra A, van Biesen W, Dekkers OM (2015). "European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults". Eur. J. Endocrinol. 173 (2): G1–20. doi:10.1530/EJE-15-0628. PMID 26160136.
↑ ^9.0 ^9.1 Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990). "Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients". N. Engl. J. Med. 322 (26): 1829–36. doi:10.1056/NEJM199006283222601. PMID 2348835.
↑ Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM (1990). "Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism". J. Clin. Invest. 86 (4): 1084–7. doi:10.1172/JCI114811. PMC 296835. PMID 2212001.
↑ ^11.0 ^11.1 Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN (2009). "Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism". Hum. Mutat. 30 (1): 85–92. doi:10.1002/humu.20827. PMID 18712808.
↑ Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S (1999). "A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism". J. Clin. Endocrinol. Metab. 84 (10): 3792–6. doi:10.1210/jcem.84.10.6070. PMID 10523031.
↑ Ding C, Buckingham B, Levine MA (2001). "Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB". J. Clin. Invest. 108 (8): 1215–20. doi:10.1172/JCI13180. PMC 209530. PMID 11602629.
↑ Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N (2017). "A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism". Hum. Genet. 136 (7): 835–845. doi:10.1007/s00439-017-1804-9. PMC 5487855. PMID 28444561.
↑ ^15.0 ^15.1 Roszko KL, Bi RD, Mannstadt M (2016). "Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2". Front Physiol. 7: 458. doi:10.3389/fphys.2016.00458. PMC 5067375. PMID 27803672.
↑ ^16.0 ^16.1 Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L (2006). "Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome". J. Nephrol. 19 (4): 525–8. PMID 17048213.
↑ ^17.0 ^17.1 Choi KH, Shin CH, Yang SW, Cheong HI (2015). "Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C". Korean J Pediatr. 58 (4): 148–53. doi:10.3345/kjp.2015.58.4.148. PMC 4414630. PMID 25932037.
↑ ^18.0 ^18.1 Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM (2010). "DiGeorge Syndrome: a not so rare disease". Clinics (Sao Paulo). 65 (9): 865–9. PMC 2954737. PMID 21049214.
↑ ^19.0 ^19.1 Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E (2011). "Unique phenotype in a patient with CHARGE syndrome". Int J Pediatr Endocrinol. 2011: 11. doi:10.1186/1687-9856-2011-11. PMC 3216247. PMID 21995344.
↑ ^20.0 ^20.1 Metwalley KA, Farghaly HS (2012). "Kenny-Caffey syndrome type 1 in an Egyptian girl". Indian J Endocrinol Metab. 16 (5): 827–9. doi:10.4103/2230-8210.100645. PMC 3475915. PMID 23087875.
↑ ^21.0 ^21.1 Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S (2014). "A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2". J. Bone Miner. Res. 29 (4): 992–8. doi:10.1002/jbmr.2091. PMID 23996431.
↑ ^22.0 ^22.1 Rafique B, Al-Yaarubi S (2010). "Sanjad-Sakati Syndrome in Omani children". Oman Med J. 25 (3): 227–9. doi:10.5001/omj.2010.63. PMC 3191633. PMID 22043344.
↑ ^23.0 ^23.1 Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001). "GATA3 abnormalities and the phenotypic spectrum of HDR syndrome". J. Med. Genet. 38 (6): 374–80. PMC 1734904. PMID 11389161.
↑ ^24.0 ^24.1 Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K (2000). "GATA3 haplo-insufficiency causes human HDR syndrome". Nature. 406 (6794): 419–22. doi:10.1038/35019088. PMID 10935639.
↑ ^25.0 ^25.1 Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S (2017). "Mitochondrial disease and endocrine dysfunction". Nat Rev Endocrinol. 13 (2): 92–104. doi:10.1038/nrendo.2016.151. PMID 27716753.
↑ ^26.0 ^26.1 Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO (2006). "Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency". Eur. J. Pediatr. 165 (6): 389–91. doi:10.1007/s00431-005-0052-5. PMID 16523289.
↑ "mitochondrial trifunctional protein deficiency - Genetics Home Reference".
↑ ^28.0 ^28.1 Tyni T, Rapola J, Palotie A, Pihko H (1997). "Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation". J. Pediatr. 131 (5): 766–8. PMID 9403664.
↑ ^29.0 ^29.1 Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC (2014). "Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis". Endocrinol Metab (Seoul). 29 (1): 91–5. doi:10.3803/EnM.2014.29.1.91. PMC 3970271. PMID 24741460.
↑ "hereditary hemochromatosis - Genetics Home Reference".
↑ ^31.0 ^31.1 Carpenter TO, Carnes DL, Anast CS (1983). "Hypoparathyroidism in Wilson's disease". N. Engl. J. Med. 309 (15): 873–7. doi:10.1056/NEJM198310133091501. PMID 6888480.
↑ "Wilson disease - Genetics Home Reference".

Template:WH Template:WS

[pmid14184232-1] HARRISON MT (1964). "INTERRELATIONSHIPS OF VITAMIN D AND PARATHYROID HORMONE IN CALCIUM HOMEOSTASIS". Postgrad Med J. 40: 497–505. PMC 2482768. PMID 14184232.

[2] Nussey, Stephen (2001). Endocrinology : an integrated approach. Oxford, UK Bethesda, Md: Bios NCBI. ISBN 1-85996-252-1.

[pmid8255296-3] Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O; et al. (1993). "Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid". Nature. 366 (6455): 575–80. doi:10.1038/366575a0. PMID 8255296.

[pmid7791841-4] Brown EM, Pollak M, Seidman CE, Seidman JG, Chou YH, Riccardi D; et al. (1995). "Calcium-ion-sensing cell-surface receptors". N Engl J Med. 333 (4): 234–40. doi:10.1056/NEJM199507273330407. PMID 7791841.

[pmid21812031-5] Bilezikian JP, Khan A, Potts JT, Brandi ML, Clarke BL, Shoback D, Jüppner H, D'Amour P, Fox J, Rejnmark L, Mosekilde L, Rubin MR, Dempster D, Gafni R, Collins MT, Sliney J, Sanders J (2011). "Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research". J. Bone Miner. Res. 26 (10): 2317–37. doi:10.1002/jbmr.483. PMC 3405491. PMID 21812031.

[pmid25982044-6] Ritter K, Elfenbein D, Schneider DF, Chen H, Sippel RS (2015). "Hypoparathyroidism after total thyroidectomy: incidence and resolution". J. Surg. Res. 197 (2): 348–53. doi:10.1016/j.jss.2015.04.059. PMC 4466142. PMID 25982044.

[pmid12678507-7] Sturniolo G, Lo Schiavo MG, Tonante A, D'Alia C, Bonanno L (2000). "Hypocalcemia and hypoparathyroidism after total thyroidectomy: a clinical biological study and surgical considerations". Int. J. Surg. Investig. 2 (2): 99–105. PMID 12678507.

[pmid26160136-8] Bollerslev J, Rejnmark L, Marcocci C, Shoback DM, Sitges-Serra A, van Biesen W, Dekkers OM (2015). "European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults". Eur. J. Endocrinol. 173 (2): G1–20. doi:10.1530/EJE-15-0628. PMID 26160136.

[pmid2348835-9] 9.0 ^9.1 Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990). "Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients". N. Engl. J. Med. 322 (26): 1829–36. doi:10.1056/NEJM199006283222601. PMID 2348835.

[pmid2212001-10] Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM (1990). "Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism". J. Clin. Invest. 86 (4): 1084–7. doi:10.1172/JCI114811. PMC 296835. PMID 2212001.

[pmid18712808-11] 11.0 ^11.1 Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN (2009). "Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism". Hum. Mutat. 30 (1): 85–92. doi:10.1002/humu.20827. PMID 18712808.

[pmid10523031-12] Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S (1999). "A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism". J. Clin. Endocrinol. Metab. 84 (10): 3792–6. doi:10.1210/jcem.84.10.6070. PMID 10523031.

[pmid11602629-13] Ding C, Buckingham B, Levine MA (2001). "Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB". J. Clin. Invest. 108 (8): 1215–20. doi:10.1172/JCI13180. PMC 209530. PMID 11602629.

[pmid28444561-14] Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N (2017). "A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism". Hum. Genet. 136 (7): 835–845. doi:10.1007/s00439-017-1804-9. PMC 5487855. PMID 28444561.

[pmid278036722-15] 15.0 ^15.1 Roszko KL, Bi RD, Mannstadt M (2016). "Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2". Front Physiol. 7: 458. doi:10.3389/fphys.2016.00458. PMC 5067375. PMID 27803672.

[pmid17048213-16] 16.0 ^16.1 Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L (2006). "Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome". J. Nephrol. 19 (4): 525–8. PMID 17048213.

[pmid25932037-17] 17.0 ^17.1 Choi KH, Shin CH, Yang SW, Cheong HI (2015). "Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C". Korean J Pediatr. 58 (4): 148–53. doi:10.3345/kjp.2015.58.4.148. PMC 4414630. PMID 25932037.

[pmid21049214-18] 18.0 ^18.1 Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM (2010). "DiGeorge Syndrome: a not so rare disease". Clinics (Sao Paulo). 65 (9): 865–9. PMC 2954737. PMID 21049214.

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@@ Line 2: / Line 2: @@
 {{Hypoparathyroidism}}
-{{CMG}}; {{AE}}
+{{CMG}}; {{AE}} {{Anmol}}
 ==Overview==
-The exact pathogenesis of [disease name] is not fully understood.
+Hypoparathyroidism is a decrease in [[serum]] [[parathyroid hormone]]. Normally, [[parathyroid hormone]] increases [[serum]] [[calcium]] and [[magnesium]] concentration, and decreases [[serum]] [[phosphate]] concentration. [[Secretion]] of [[parathyroid hormone]] from [[parathyroid gland]] is stimulated by [[Hypocalcemia|low serum calcium]]. [[Parathyroid glands]] have [[calcium]]-sensing receptors responsible for sensing [[extracellular]] ionized [[calcium]]. [[Calcium]] and [[magnesium]] provides a [[negative feedback]] for [[secretion]] of [[parathyroid hormone]]. Deficiency of [[parathyroid hormone]] causes body to decrease [[reabsorption]] of [[calcium]] from [[bone]], [[excretion]] of [[phosphate]], [[reabsorbtion]] of [[calcium]] from [[distal tubules]], and [[vitamin D]] mediated [[absorption]] of [[calcium]] from [[intestine]] leading to [[hypocalcemia]]. Many [[Genetic disorder|genetic conditions]] are associated with hypoparathyroidism. Hypoparathyroidism associated with [[genetic defects]] may be either [[autoimmune]] hypoparathyroidism, isolated hypoparathyroidism, associated with [[congenital]] multisystem syndromes, or a part of [[metabolic]] disorders.
-OR
-It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
-OR
-[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
-OR
-Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
-OR
-[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
-OR
-The progression to [disease name] usually involves the [molecular pathway].
-OR
-The pathophysiology of [disease/malignancy] depends on the histological subtype.
 ==Pathophysiology==
-===Parathyroid, Vitamin D, and mineral homeostasis===
+===Parathyroid, Vitamin D, and Mineral Homeostasis===
 The effect of [[parathyroid hormone]] on [[mineral]] [[metabolism]] is as follows:<ref name="pmid14184232">{{cite journal |vauthors=HARRISON MT |title=INTERRELATIONSHIPS OF VITAMIN D AND PARATHYROID HORMONE IN CALCIUM HOMEOSTASIS |journal=Postgrad Med J |volume=40 |issue= |pages=497–505 |year=1964 |pmid=14184232 |pmc=2482768 |doi= |url=}}</ref><ref>{{cite book | last = Nussey | first = Stephen | title = Endocrinology : an integrated approach | publisher = Bios NCBI | location = Oxford, UK Bethesda, Md | year = 2001 | isbn = 1-85996-252-1 }}</ref>
 *Effect of [[parathyroid hormone]] on [[inorganic phosphate]] [[metabolism]]:
-**Increases [[excretion]] of [[Phosphate|inorganic phosphate]] from [[kidney]] resulting in decreased serum concentration of [[phosphate]].
+**Increases [[excretion]] of [[Phosphate|inorganic phosphate]] from [[kidney]] resulting in decreased [[serum]] concentration of [[phosphate]].
 *Effect on [[parathyroid hormone]] on [[calcium]] [[metabolism]]:
 **Direct effect:
@@ Line 41: / Line 16: @@
 ***Decreases [[excretion]] from [[kidney]].
 **Indirect effect:
-***Increases conversion of inactive [[25-hydroxy vitamin D]] to the active [[1,25-dihydroxy vitamin D]] which increases absorption of [[calcium]] from [[gut]]. Decreased phosphate concentration also increases this conversion process. [[Vitamin D]] shows synergism with [[parathyroid hormone]] action on [[bone]].
+***Increases conversion of inactive [[25-hydroxy vitamin D]] to the active [[1,25-dihydroxy vitamin D]] which increases absorption of [[calcium]] from [[gut]]. Decreased [[phosphate]] concentration also increases this conversion process. [[Vitamin D]] shows synergism with [[parathyroid hormone]] action on [[bone]].
 ***Decreased serum [[inorganic phosphate]] concentration prevents [[Precipitation (chemistry)|precipitation]] of [[calcium phosphate]] in [[Bone (disambiguation)|bones]].
-**Both these direct and indirect mechanism results in an increased serum [[calcium]] concentration.
+**Both these direct and indirect mechanism results in an increased [[serum]] [[calcium]] concentration.
 *Effect of [[parathyroid hormone]] on [[magnesium]] concentration:
 **Decreases [[excretion]] of [[magnesium]] resulting in increased serum [[magnesium]] concentretion.
@@ Line 51: / Line 26: @@
 *[[Magnesium]] provides [[negative feedback]] on [[parathyroid hormone]].
 *[[Vitamin D]] decreases the concentration of [[parathyroid hormone]].
-The sequence of events is shown in the algorithm below:
+<br><br><br>
+<br>
+<br>
+<br>
+<div style="text-align: center;">'''The Sequence of Events in Parathyroid, Vitamin D, and Mineral Homeostasis''' </div>
+<br>
 {{familytree/start |}}
 {{familytree | | | | | | | | | | | | A01 |A01='''Parathyroid hormone'''}}
 {{familytree | | | | | | | |,|-|-|-|-|^|-|-|-|-|-|-|-|-|-|-|-|-|-|-|.|}}
-{{familytree | | | | | | | B01 | | | | | | | | | | | | | | | | | | B02 | | |B01=Kidney|B02=Bone}}
+{{familytree | | | | | | | B01 | | | | | | | | | | | | | | | | | | B02 | | |B01=[[Kidney]]|B02=[[Bone]]}}
 {{familytree | |,|-|-|-|-|-|+|-|-|-|-|v|-|-|-|-|-|-|.| | | | | | | |!| }}
-{{familytree | C01 | | | | C02 | | | C03 | | | | | C04 | | | | | | C05 |C01=Decreased excretion of magnesium|C02=Increasead conversion of inactive 25-hydroyxvitamin D to the active 1,25-dihydroyxvitamin D|C03=Increase excretion of inorganic phosphate|C04=Decrease excretion of calcium|C05=Increased resorption of bone}}
+{{familytree | C01 | | | | C02 | | | C03 | | | | | C04 | | | | | | C05 |C01=Decreased [[excretion]] of [[magnesium]]|C02=Increasead conversion of inactive [[25-hydroyx vitamin D]] to the active [[1,25-dihydroy xvitamin D]]|C03=Increase [[excretion]] of inorganic [[phosphate]]|C04=Decrease [[excretion]] of [[calcium]]|C05=Increased [[resorption]] of [[bone]]}}
 {{familytree | |!| | | | | |!| | | | |!| | | | | | |!| | | | | | | |!| |}}
-{{familytree | D01 | | | | D02 | | | D03 | | | | | |`|-|-|-|-|.| | |!|D01=Increased serum concentration of magnesium|D02=Increased absorption of calcium from gut|D03=Decreased serum concentration of inorganic phosphate}}
+{{familytree | D01 | | | | D02 | | | D03 | | | | | |`|-|-|-|-|.| | |!|D01=Increased serum concentration of [[magnesium]]|D02=Increased absorption of [[calcium]] from [[gut]]|D03=Decreased [[serum]] concentration of inorganic [[phosphate]]}}
 {{familytree | | | | | | | |!| | | | |!| | | | | | | | | | | |!| | |!|}}
-{{familytree | | | | | | | |!| | | | |`|-|-| E01 |-|-|-|-|.| |!| | |!| E01=Prevents precipitation of calcium phosphate in bones}}
+{{familytree | | | | | | | |!| | | | |`|-|-| E01 |-|-|-|-|.| |!| | |!| E01=Prevents precipitation of [[calcium phosphate]] in [[bones]]}}
 {{familytree | | | | | | | |!| | | | | | | | | | | | | | |!| |!| | |!| | | | | |}}
-{{familytree | | | | | | | |`|-|-|-|-|-|-|-|-|-|-|-|-|-|-| F01 |-|-|'| | |F01=Increased serum concentration of calcium}}
+{{familytree | | | | | | | |`|-|-|-|-|-|-|-|-|-|-|-|-|-|-| F01 |-|-|'| | |F01=Increased serum concentration of [[calcium]]}}
 {{familytree/end}}
+<br>
 ===Calcium-sensing receptors===
-*[[Calcium]]-sensing [[Receptor (biochemistry)|receptors]] are present on [[Parathyroid gland|parathyroid glands]]. They are a type of 7-transmembrane receptors in [[G-protein coupled receptors]] superfamily of receptors.<ref name="pmid8255296">{{cite journal| author=Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O et al.| title=Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. | journal=Nature | year= 1993 | volume= 366 | issue= 6455 | pages= 575-80 | pmid=8255296 | doi=10.1038/366575a0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8255296  }} </ref>
+*[[Calcium]]-sensing [[Receptor (biochemistry)|receptors]] are present on [[Parathyroid gland|parathyroid glands]]. They are a type of 7-[[transmembrane receptors]] in [[G-protein coupled receptors]] superfamily of receptors.<ref name="pmid8255296">{{cite journal| author=Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O et al.| title=Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. | journal=Nature | year= 1993 | volume= 366 | issue= 6455 | pages= 575-80 | pmid=8255296 | doi=10.1038/366575a0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8255296  }} </ref>
 *[[Calcium]]-sensing [[Receptor (biochemistry)|receptors]] sense change in [[extracellular]] concentration of ionized [[calcium]].<ref name="pmid7791841">{{cite journal| author=Brown EM, Pollak M, Seidman CE, Seidman JG, Chou YH, Riccardi D et al.| title=Calcium-ion-sensing cell-surface receptors. | journal=N Engl J Med | year= 1995 | volume= 333 | issue= 4 | pages= 234-40 | pmid=7791841 | doi=10.1056/NEJM199507273330407 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7791841  }} </ref>
+<br>
 ===Pathogenesis===
-*There is deficiency of parathyroid hormone in hypoparathyroidism.
+*There is deficiency of [[parathyroid hormone]] in hypoparathyroidism.
-*Deficiency of parathyroid hormone causes body to decrease:
+*Deficiency of [[parathyroid hormone]] causes body to decrease:
-**Reabsorption of calcium from bone.
+**[[Reabsorption]] of [[calcium]] from [[bone]].
-**Excretion of phosphate.
+**[[Excretion]] of [[phosphate]].
-**Reabsorbtion of calcium from distal tubules.
+**[[Reabsorbtion]] of [[calcium]] from [[distal tubules]].
-**Vitamin D mediated absorption of calcium from intestine.
+**[[Vitamin D]] mediated [[absorption]] of [[calcium]] from [[intestine]].
-*This leads to hypocalcemia.
+*This leads to [[hypocalcemia]].
+<br>
+<br>
+<br>
 {{Family tree/start}}
@@ Line 86: / Line 78: @@
 {{Family tree| | |,|-|-|-|-|v|-|-|^|-|-|v|-|-|-|-|.| |}}
 {{Family tree| | C01 | | | C02 | | | | C03 | | | C04 | |C01=Decrease reabsorption of calcium from bone|C02=Decrease excretion of phosphate|C03=Decrease reabsorbtion of calcium from distal tubules|C04=Decrease vitamin D mediated absorption of calcium from intestine}}
-Family tree/end}}
+{{Family tree/end}}
+<br>
 ===Post-surgical Hypoparathyroidism===
-*Anterior neck surgery most commonly cause hypoparathyroidism. Majority of time this hypoparathyroidism is transient i.e. it resolves within 6 months.<ref name="pmid21812031">{{cite journal |vauthors=Bilezikian JP, Khan A, Potts JT, Brandi ML, Clarke BL, Shoback D, Jüppner H, D'Amour P, Fox J, Rejnmark L, Mosekilde L, Rubin MR, Dempster D, Gafni R, Collins MT, Sliney J, Sanders J |title=Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research |journal=J. Bone Miner. Res. |volume=26 |issue=10 |pages=2317–37 |year=2011 |pmid=21812031 |pmc=3405491 |doi=10.1002/jbmr.483 |url=}}</ref><ref name="pmid25982044">{{cite journal |vauthors=Ritter K, Elfenbein D, Schneider DF, Chen H, Sippel RS |title=Hypoparathyroidism after total thyroidectomy: incidence and resolution |journal=J. Surg. Res. |volume=197 |issue=2 |pages=348–53 |year=2015 |pmid=25982044 |pmc=4466142 |doi=10.1016/j.jss.2015.04.059 |url=}}</ref><ref name="pmid12678507">{{cite journal |vauthors=Sturniolo G, Lo Schiavo MG, Tonante A, D'Alia C, Bonanno L |title=Hypocalcemia and hypoparathyroidism after total thyroidectomy: a clinical biological study and surgical considerations |journal=Int. J. Surg. Investig. |volume=2 |issue=2 |pages=99–105 |year=2000 |pmid=12678507 |doi= |url=}}</ref>
+*Anterior [[neck surgery]] most commonly causes hypoparathyroidism. Majority of time this hypoparathyroidism is transient i.e. it resolves within 6 months.<ref name="pmid21812031">{{cite journal |vauthors=Bilezikian JP, Khan A, Potts JT, Brandi ML, Clarke BL, Shoback D, Jüppner H, D'Amour P, Fox J, Rejnmark L, Mosekilde L, Rubin MR, Dempster D, Gafni R, Collins MT, Sliney J, Sanders J |title=Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research |journal=J. Bone Miner. Res. |volume=26 |issue=10 |pages=2317–37 |year=2011 |pmid=21812031 |pmc=3405491 |doi=10.1002/jbmr.483 |url=}}</ref><ref name="pmid25982044">{{cite journal |vauthors=Ritter K, Elfenbein D, Schneider DF, Chen H, Sippel RS |title=Hypoparathyroidism after total thyroidectomy: incidence and resolution |journal=J. Surg. Res. |volume=197 |issue=2 |pages=348–53 |year=2015 |pmid=25982044 |pmc=4466142 |doi=10.1016/j.jss.2015.04.059 |url=}}</ref><ref name="pmid12678507">{{cite journal |vauthors=Sturniolo G, Lo Schiavo MG, Tonante A, D'Alia C, Bonanno L |title=Hypocalcemia and hypoparathyroidism after total thyroidectomy: a clinical biological study and surgical considerations |journal=Int. J. Surg. Investig. |volume=2 |issue=2 |pages=99–105 |year=2000 |pmid=12678507 |doi= |url=}}</ref>
-The features of hypoparathyroidism should persist for atleast 6 month after surgery to be diagnosed as chronic hypoparathyroidism.
+*The features of hypoparathyroidism should persist for atleast 6 month after surgery to be diagnosed as chronic hypoparathyroidism.
-* 30–60% Patients undergoing total thyroidectomy develops hypocalcaemia within 24 hours as an initial manifestation of postoperative parathyroid failure. About 60%-70% of these cases resolve within 4–6 weeks after surgery. Remaining cases progress to develop protracted hypoparathyroidism requiring continuous treatment. Around 15–25% of patients with protracted HypoPT progress to chronic hypoparathyroidism.<ref name="pmid26160136">{{cite journal |vauthors=Bollerslev J, Rejnmark L, Marcocci C, Shoback DM, Sitges-Serra A, van Biesen W, Dekkers OM |title=European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults |journal=Eur. J. Endocrinol. |volume=173 |issue=2 |pages=G1–20 |year=2015 |pmid=26160136 |doi=10.1530/EJE-15-0628 |url=}}</ref>
+* 30–60% Patients undergoing total [[thyroidectomy]] develops [[hypocalcaemia]] within 24 hours as an initial manifestation of postoperative [[Parathyroid gland|parathyroid]] failure. About 60%-70% of these cases resolve within 4–6 weeks after [[surgery]]. Remaining cases progress to develop protracted hypoparathyroidism requiring continuous treatment. Around 15–25% of patients with protracted hypoparathyroidism progress to chronic hypoparathyroidism.<ref name="pmid26160136">{{cite journal |vauthors=Bollerslev J, Rejnmark L, Marcocci C, Shoback DM, Sitges-Serra A, van Biesen W, Dekkers OM |title=European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults |journal=Eur. J. Endocrinol. |volume=173 |issue=2 |pages=G1–20 |year=2015 |pmid=26160136 |doi=10.1530/EJE-15-0628 |url=}}</ref>
 *Factors favorring recovery from protracted hypoparathyroidism include:
-**Number of parathyroid glands remaining in situ
+**Number of [[parathyroid glands]] remaining in situ.
-** Serum calcium level at this stage : There is high rate of recovery in individuals whose calcium levels are normal to elevated one month postoperatively.
+** [[Serum]] [[calcium]] level at this stage : There is high rate of recovery in individuals whose [[calcium]] levels are normal to elevated one month postoperatively.
 ==Genetics==
-*'''Autoimmune hypoparathyroidism'''
-*'''Isolated hypoparathyroidism'''
+{|
-**'''Autosomal dominant inheritence'''
+! colspan="7" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Genetics of Hypoparathyroidism}}
-***[[Autosomal dominant]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]<ref name="pmid2212001">{{cite journal |vauthors=Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM |title=Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism |journal=J. Clin. Invest. |volume=86 |issue=4 |pages=1084–7 |year=1990 |pmid=2212001 |pmc=296835 |doi=10.1172/JCI114811 |url=}}</ref>
+|-
-***[[Autosomal dominant inheritance|Autosomal dominant]] familial isolated hypoparathyroidism caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]<ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
+! colspan="4" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Hypoparathyroidism}}
-****[[Dominant negative mutation]]
+! style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Inheritance}}
-***[[Autosomal dominant hypocalcemia]]<ref name="pmid27803672">{{cite journal |vauthors=Roszko KL, Bi RD, Mannstadt M |title=Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 |journal=Front Physiol |volume=7 |issue= |pages=458 |year=2016 |pmid=27803672 |pmc=5067375 |doi=10.3389/fphys.2016.00458 |url=}}</ref>
+! style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Gene mutation}}
-****[[Autosomal dominant hypocalcemia]] type 1
+! style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Clinical features}}
-*****[[Calcium-sensing receptor|Calcium-sensing]] receptor gene activating mutation.
+|-
-*****'''Most common genetic form''' of hypoparathyroidism.
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Autoimmune]]'''
-*****Also known as familial hypercalciuric hypocalcemia.
+| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Autoimmune polyglandular hypoparathyroidism'''
-*****The activating mutation results in gain in function.
+| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Autoimmune polyendocrine syndrome type 1]]'''<ref name="pmid2348835">{{cite journal |vauthors=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J |title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients |journal=N. Engl. J. Med. |volume=322 |issue=26 |pages=1829–36 |year=1990 |pmid=2348835 |doi=10.1056/NEJM199006283222601 |url=}}</ref>
-*****Calcium-sensing receptor gene activating mutation can also cause Bartter syndrome type 5.This mutation cause the inhibition of apical potassium channel in the thick ascending limb of the loop of Henle in the kidney.<ref name="pmid17048213">{{cite journal |vauthors=Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L |title=Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome |journal=J. Nephrol. |volume=19 |issue=4 |pages=525–8 |year=2006 |pmid=17048213 |doi= |url=}}</ref><ref name="pmid25932037">{{cite journal |vauthors=Choi KH, Shin CH, Yang SW, Cheong HI |title=Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C |journal=Korean J Pediatr |volume=58 |issue=4 |pages=148–53 |year=2015 |pmid=25932037 |pmc=4414630 |doi=10.3345/kjp.2015.58.4.148 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
-****[[Autosomal dominant hypocalcemia]] type 2
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mutation in AIRE [[gene]]
-*****G protein G11 (GNA11) mutation.
+| style="padding: 5px 5px; background: #F5F5F5;" |
-**'''Autosomal recessive inheritence'''
+*Also known as [[Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy]] ([[APECED syndrome|APECED]])
-***[[Autosomal recessive]] familial isolated hypoparathyroidism caused by PTH [[gene mutation]]<ref name="pmid10523031">{{cite journal |vauthors=Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S |title=A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=10 |pages=3792–6 |year=1999 |pmid=10523031 |doi=10.1210/jcem.84.10.6070 |url=}}</ref>
+*Presents with a variable combination of:
-***[[Autosomal recessive]] familial isolated hypoparathyroidism caused by glial cells missing 2 ([[GCM2]]) [[gene mutation]]<ref name="pmid11602629">{{cite journal |vauthors=Ding C, Buckingham B, Levine MA |title=Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB |journal=J. Clin. Invest. |volume=108 |issue=8 |pages=1215–20 |year=2001 |pmid=11602629 |pmc=209530 |doi=10.1172/JCI13180 |url=}}</ref><ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
+**Failure of the [[Parathyroid gland|parathyroid glands]], [[adrenal cortex]], [[gonads]], [[pancreatic beta cells]], [[gastric parietal cells]], [[thyroid gland]], and [[hepatitis]]
-**'''X-linked inheritence'''
+**Chronic [[mucocutaneous]] [[candidiasis]]
-***X-linked recessive familial isolated hypoparathyroidism
+**[[Dystrophy]] of [[dental enamel]] and [[nails]], [[alopecia]], [[vitiligo]], and keratopathy
-****Caused by mutation in [[gene]] variant [[FHL1 (gene)|FHL1]] (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27.<ref name="pmid28444561">{{cite journal |vauthors=Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N |title=A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism |journal=Hum. Genet. |volume=136 |issue=7 |pages=835–845 |year=2017 |pmid=28444561 |pmc=5487855 |doi=10.1007/s00439-017-1804-9 |url=}}</ref>
+|-
-*'''Congenital multisystem syndromes'''
+| colspan="2" rowspan="7" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Isolated'''
-**'''[[DiGeorge syndrome]]'''<ref name="pmid21049214">{{cite journal |vauthors=Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM |title=DiGeorge Syndrome: a not so rare disease |journal=Clinics (Sao Paulo) |volume=65 |issue=9 |pages=865–9 |year=2010 |pmid=21049214 |pmc=2954737 |doi= |url=}}</ref>
+| colspan="2" rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Familial Isolated hypoparathyroidism'''
-***[[Autosomal dominant inheritance]] pattern in present.
+| rowspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
-***Presents with [[thymus]] [[dysfunction]], [[cardiac]] defects, [[immunodeficiency]], [[hypocalcemia]], and other clinical problems.
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |PTH [[gene]]<ref name="pmid2212001">{{cite journal |vauthors=Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM |title=Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism |journal=J. Clin. Invest. |volume=86 |issue=4 |pages=1084–7 |year=1990 |pmid=2212001 |pmc=296835 |doi=10.1172/JCI114811 |url=}}</ref>
-***Caused by [[22q11.2 deletion syndrome|22q11.2 deletion]].
+| style="padding: 5px 5px; background: #F5F5F5;" |
-***Also known as [[22q11.2DS]], [[CATCH 22 syndrome]], [[Cayler cardiofacial syndrome]], [[conotruncal anomaly face syndrome]] ([[CTAF]]), [[deletion 22q11.2 syndrome]], [[Sedlackova syndrome]], [[Shprintzen syndrome]], VCFS, [[velocardiofacial syndrome]], and velo-cardio-facial syndrome.
+*Clinical features of hypocalcemia including:
-***[[CATCH 22 syndrome|CATCH 22]] stands for [[cardiac]] defects, abnormal facies, [[thymic]] [[aplasia]], [[cleft palate]], and [[hypocalcemia]] with [[22q11.2 deletion syndrome|22q11.2 deletion]].
+**[[Tetany]] (hallmark of acute [[hypocalcemia]])
-**'''[[CHARGE syndrome]]'''<ref name="pmid21995344">{{cite journal |vauthors=Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E |title=Unique phenotype in a patient with CHARGE syndrome |journal=Int J Pediatr Endocrinol |volume=2011 |issue= |pages=11 |year=2011 |pmid=21995344 |pmc=3216247 |doi=10.1186/1687-9856-2011-11 |url=}}</ref>
+**[[Paresthesia]] in [[fingertips]], [[toes]], and perioral area
-***[[Autosomal dominant inheritance]] pattern in present.
+**[[Carpopedal spasm|Carpopedal spasms]]
-***Presents with [[coloboma]], [[heart]] defects, [[Choanal atresia|atresia choanae]], retarded growth and development, [[Genitourinary pathology|genitourinary abnormalities]], and [[ear]] anomalies and/or [[deafness]].
+**Circumoral [[numbness]]
-***Caused by CHD7 G744S [[missense mutation]].
+|-
-**'''Kenny-Caffey syndrome type 1'''<ref name="pmid23087875">{{cite journal |vauthors=Metwalley KA, Farghaly HS |title=Kenny-Caffey syndrome type 1 in an Egyptian girl |journal=Indian J Endocrinol Metab |volume=16 |issue=5 |pages=827–9 |year=2012 |pmid=23087875 |pmc=3475915 |doi=10.4103/2230-8210.100645 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Glial cells]] missing [[GCM2]] [[gene]]<ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
-***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
+| style="padding: 5px 5px; background: #F5F5F5;" |
-***Deletion of the [[TBCE]] gene responsible for encoding a protein that participates in beta-tubulin folding.
+*Clinical features of [[hypocalcemia]] including:
-***Presents with [[hypoparathyroidism]] due to absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones.
+**[[Tetany]] (hallmark of acute [[hypocalcemia]])
-**'''Kenny-Caffey syndrome type 2'''<ref name="pmid23996431">{{cite journal |vauthors=Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S |title=A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 |journal=J. Bone Miner. Res. |volume=29 |issue=4 |pages=992–8 |year=2014 |pmid=23996431 |doi=10.1002/jbmr.2091 |url=}}</ref>
+**[[Paresthesia]] in [[fingertips]], [[toes]], and perioral area
-***[[Autosomal dominant inheritance]] pattern in present.
+**[[Carpopedal spasm|Carpopedal spasms]]
-***Mutation of “family with sequence similarity 111, member A″ (FAM111A) gene located on chromosome locus 11q12.1.
+**Circumoral [[numbness]]
-***Patients with Kenny-Caffey sundrome type 2 have same clinical features as Kenny-Caffey syndrome type 1 except for mental retardation.
+*[[Dominant negative mutation]]
-**'''Sanjad-Sakati syndrome'''<ref name="pmid22043344">{{cite journal |vauthors=Rafique B, Al-Yaarubi S |title=Sanjad-Sakati Syndrome in Omani children |journal=Oman Med J |volume=25 |issue=3 |pages=227–9 |year=2010 |pmid=22043344 |pmc=3191633 |doi=10.5001/omj.2010.63 |url=}}</ref>
+|-
-***Sanjad-Sakati syndrome in exclusively found in arabian descent population.
+| rowspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
-***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Parathyroid hormone|PTH]] [[gene]]<ref name="pmid10523031">{{cite journal |vauthors=Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S |title=A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=10 |pages=3792–6 |year=1999 |pmid=10523031 |doi=10.1210/jcem.84.10.6070 |url=}}</ref>
-***Mutation in [[TBCE]] gene.
+| style="padding: 5px 5px; background: #F5F5F5;" |
-***Presents with hypoparathyroidism, [[intellectual disability]], [[Dysmorphic feature|dysmorphism]].
+*Clinical features of [[hypocalcemia]] including:
-**'''[[Barakat syndrome]]'''<ref name="pmid11389161">{{cite journal |vauthors=Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T |title=GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |journal=J. Med. Genet. |volume=38 |issue=6 |pages=374–80 |year=2001 |pmid=11389161 |pmc=1734904 |doi= |url=}}</ref><ref name="pmid10935639">{{cite journal |vauthors=Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K |title=GATA3 haplo-insufficiency causes human HDR syndrome |journal=Nature |volume=406 |issue=6794 |pages=419–22 |year=2000 |pmid=10935639 |doi=10.1038/35019088 |url=}}</ref>
+**[[Tetany]] (hallmark of acute [[hypocalcemia]])
-***[[Autosomal recessive|Autosomal recessive inheritance]] pattern in present.
+**[[Paresthesia]] in [[fingertips]], [[toes]], and perioral area
-***[[Mutation|Mutations]] in the [[GATA3]] gene
+**[[Carpopedal spasm|Carpopedal spasms]]
-***Also known as hypoparathyroidism, [[deafness]], and renal dysplasia (HDR) syndrome
+**Circumoral [[numbness]]
-***Presents with primary hypoparathyroidism, nerve [[deafness]], steroid-resistant [[nephrosis]].
+|-
-*'''Metabolic diseases'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Glial cells]] missing 2 ([[GCM2]]) [[gene]]<ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref><ref name="pmid11602629">{{cite journal |vauthors=Ding C, Buckingham B, Levine MA |title=Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB |journal=J. Clin. Invest. |volume=108 |issue=8 |pages=1215–20 |year=2001 |pmid=11602629 |pmc=209530 |doi=10.1172/JCI13180 |url=}}</ref>
-**Mitochondiral polyneuropathies<ref name="pmid27716753">{{cite journal |vauthors=Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S |title=Mitochondrial disease and endocrine dysfunction |journal=Nat Rev Endocrinol |volume=13 |issue=2 |pages=92–104 |year=2017 |pmid=27716753 |doi=10.1038/nrendo.2016.151 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" |
-***Kearns–Sayre syndrome
+*Clinical features of hypocalcemia including:
-***Maternally inherited diabetes and deafness (MIDD)
+**[[Tetany]] (hallmark of acute [[hypocalcemia]])
-**Mitochondrial enzyme deficiencies
+**[[Paresthesia]] in [[fingertips]], [[toes]], and perioral area
-***Mitochondrial trifunctional protein deficiency (MTP deficiency)<ref name="pmid16523289">{{cite journal |vauthors=Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO |title=Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency |journal=Eur. J. Pediatr. |volume=165 |issue=6 |pages=389–91 |year=2006 |pmid=16523289 |doi=10.1007/s00431-005-0052-5 |url=}}</ref>
+**[[Carpopedal spasm|Carpopedal spasms]]
-***Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)<ref name="pmid9403664">{{cite journal |vauthors=Tyni T, Rapola J, Palotie A, Pihko H |title=Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation |journal=J. Pediatr. |volume=131 |issue=5 |pages=766–8 |year=1997 |pmid=9403664 |doi= |url=}}</ref>
+**Circumoral [[numbness]]
-**Heavy metal storage disorders
+|-
-***Hemochromatosis<ref name="pmid24741460">{{cite journal |vauthors=Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC |title=Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis |journal=Endocrinol Metab (Seoul) |volume=29 |issue=1 |pages=91–5 |year=2014 |pmid=24741460 |pmc=3970271 |doi=10.3803/EnM.2014.29.1.91 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[X-linked]]
-***Wilson's disease<ref name="pmid6888480">{{cite journal |vauthors=Carpenter TO, Carnes DL, Anast CS |title=Hypoparathyroidism in Wilson's disease |journal=N. Engl. J. Med. |volume=309 |issue=15 |pages=873–7 |year=1983 |pmid=6888480 |doi=10.1056/NEJM198310133091501 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[FHL1 (gene)|FHL1]] [[gene]] ([[exon]] 4, c.C283T, p.R95W) on [[chromosome]] [[locus]] Xq26-q27<ref name="pmid28444561">{{cite journal |vauthors=Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N |title=A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism |journal=Hum. Genet. |volume=136 |issue=7 |pages=835–845 |year=2017 |pmid=28444561 |pmc=5487855 |doi=10.1007/s00439-017-1804-9 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Clinical features of hypocalcemia including:
+**[[Tetany]] (hallmark of acute [[hypocalcemia]])
+**[[Paresthesia]] in [[fingertips]], [[toes]], and perioral area
+**[[Carpopedal spasm|Carpopedal spasms]]
+**Circumoral [[numbness]]
+|-
+| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Autosomal dominant hypercalcemia]]'''<ref name="pmid278036722">{{cite journal |vauthors=Roszko KL, Bi RD, Mannstadt M |title=Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 |journal=Front Physiol |volume=7 |issue= |pages=458 |year=2016 |pmid=27803672 |pmc=5067375 |doi=10.3389/fphys.2016.00458 |url=}}</ref>
+| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Autosomal dominant]] hypocalcemia type 1'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Calcium-sensing receptor]] [[gene mutation]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*[[Calcium-sensing receptor]] gene activating [[mutation]]
+*'''Most common [[genetic]] form''' of hypoparathyroidism
+*Also known as familial hypercalciuric hypocalcemia
+*The activating [[mutation]] results in gain in function
+:'''NOTE:''' [[Calcium-sensing receptor]] [[gene]] activating [[mutation]] can also cause mild [[Bartter syndrome]] type 5. This [[mutation]] cause the inhibition of apical [[potassium]] channel in the [[Thick ascending limb of loop of Henle|thick ascending limb]] of the [[loop of Henle]] in the [[kidney]].<ref name="pmid17048213">{{cite journal |vauthors=Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L |title=Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome |journal=J. Nephrol. |volume=19 |issue=4 |pages=525–8 |year=2006 |pmid=17048213 |doi= |url=}}</ref><ref name="pmid25932037">{{cite journal |vauthors=Choi KH, Shin CH, Yang SW, Cheong HI |title=Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C |journal=Korean J Pediatr |volume=58 |issue=4 |pages=148–53 |year=2015 |pmid=25932037 |pmc=4414630 |doi=10.3345/kjp.2015.58.4.148 |url=}}</ref>
+|-
+| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Autosomal dominant]] hypocalcemia type 2'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[G protein]] G11 ([[GNA11]]) [[mutation]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Clinical features of [[hypocalcemia]] including:
+**[[Tetany]] (hallmark of acute [[hypocalcemia]])
+**[[Paresthesia]] in [[fingertips]], [[toes]], and perioral area
+**[[Carpopedal spasm|Carpopedal spasms]]
+**Circumoral [[numbness]]
+|-
+| colspan="2" rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Congenital multisystem syndromes'''
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[DiGeorge syndrome]]'''<ref name="pmid21049214">{{cite journal |vauthors=Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM |title=DiGeorge Syndrome: a not so rare disease |journal=Clinics (Sao Paulo) |volume=65 |issue=9 |pages=865–9 |year=2010 |pmid=21049214 |pmc=2954737 |doi= |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[22q11.2 deletion syndrome|22q11.2 deletion]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+* Presents with:
+**[[Thymus]] [[dysfunction]]
+**[[Cardiac]] defects
+**[[Immunodeficiency]]
+**[[Hypocalcemia]]
+**Other clinical problems
+*Also known as:
+**[[22q11.2DS]] or [[deletion 22q11.2 syndrome]]
+**[[CATCH 22 syndrome]]
+**[[Cayler cardiofacial syndrome]]
+**[[Conotruncal anomaly face syndrome]] ([[CTAF]])
+**[[Sedlackova syndrome]]
+**[[Shprintzen syndrome]]
+**[[Velocardiofacial syndrome|VCFS]] or [[velocardiofacial syndrome]] or [[Velocardiofacial syndrome|velo-cardio-facial syndrome]]
+*[[CATCH 22 syndrome|CATCH 22]] stands for:
+**[[Cardiac]] defects
+**Abnormal facies
+**[[Thymic]] [[aplasia]]
+**[[Cleft palate]]
+**[[Hypocalcemia]] with [[22q11.2 deletion syndrome|22q11.2 deletion]]
+|-
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[CHARGE syndrome]]'''<ref name="pmid21995344">{{cite journal |vauthors=Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E |title=Unique phenotype in a patient with CHARGE syndrome |journal=Int J Pediatr Endocrinol |volume=2011 |issue= |pages=11 |year=2011 |pmid=21995344 |pmc=3216247 |doi=10.1186/1687-9856-2011-11 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |CHD7 G744S [[missense mutation]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+* Presents with:
+**[[Coloboma]]
+**[[Cardiac]] defects
+**[[Choanal atresia|Atresia choanae]]
+**Retarded growth and development
+**[[Genitourinary pathology|Genitourinary abnormalities]]
+**[[Ear]] anomalies and/or [[deafness]]
+|-
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Kenny-Caffey syndrome type 1]]'''<ref name="pmid23087875">{{cite journal |vauthors=Metwalley KA, Farghaly HS |title=Kenny-Caffey syndrome type 1 in an Egyptian girl |journal=Indian J Endocrinol Metab |volume=16 |issue=5 |pages=827–9 |year=2012 |pmid=23087875 |pmc=3475915 |doi=10.4103/2230-8210.100645 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Deletion of the [[TBCE]] [[gene]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+* Presents with [[hypoparathyroidism]] due to:
+**Absent [[Parathyroid gland|parathyroid tissue]]
+**Growth retardation
+**[[Medullary]] stenosis of tubular [[bones]]
+|-
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Kenny-Caffey syndrome type 2]]'''<ref name="pmid23996431">{{cite journal |vauthors=Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S |title=A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 |journal=J. Bone Miner. Res. |volume=29 |issue=4 |pages=992–8 |year=2014 |pmid=23996431 |doi=10.1002/jbmr.2091 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal dominant]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mutation of “family with sequence similarity 111, member A″ (FAM111A) [[gene]] located on [[chromosome]] [[locus]] 11q12.1
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Similar clinical features as Kenny-Caffey syndrome type 1
+*Except for [[mental retardation]]
+|-
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Sanjad-Sakati syndrome]]'''<ref name="pmid22043344">{{cite journal |vauthors=Rafique B, Al-Yaarubi S |title=Sanjad-Sakati Syndrome in Omani children |journal=Oman Med J |volume=25 |issue=3 |pages=227–9 |year=2010 |pmid=22043344 |pmc=3191633 |doi=10.5001/omj.2010.63 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Mutation]] in [[TBCE]] [[gene]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Exclusively found in arabian descent population
+* Presents with:
+**Hypoparathyroidism
+**[[Intellectual disability]]
+**[[Dysmorphic feature|Dysmorphism]]
+|-
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Barakat syndrome]]'''<ref name="pmid11389161">{{cite journal |vauthors=Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T |title=GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |journal=J. Med. Genet. |volume=38 |issue=6 |pages=374–80 |year=2001 |pmid=11389161 |pmc=1734904 |doi= |url=}}</ref><ref name="pmid10935639">{{cite journal |vauthors=Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K |title=GATA3 haplo-insufficiency causes human HDR syndrome |journal=Nature |volume=406 |issue=6794 |pages=419–22 |year=2000 |pmid=10935639 |doi=10.1038/35019088 |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Mutation|Mutations]] in the [[GATA3]] [[gene]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Also known as hypoparathyroidism, [[deafness]], and [[renal]] [[dysplasia]] (HDR) syndrome.
+*Presents with:
+**Primary hypoparathyroidism
+**Nerve [[deafness]]
+**[[Steroid]]-resistant [[nephrosis]]
+|-
+| rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Metabolic diseases'''
+| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Mitochondiral polyneuropathies'''<ref name="pmid27716753">{{cite journal |vauthors=Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S |title=Mitochondrial disease and endocrine dysfunction |journal=Nat Rev Endocrinol |volume=13 |issue=2 |pages=92–104 |year=2017 |pmid=27716753 |doi=10.1038/nrendo.2016.151 |url=}}</ref>
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Kearns–Sayre syndrome]]'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" | [[Mitochondrial]] inheritence
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" | mtDNA deletion
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Presents with:
+**Progressive external [[ophthalmoplegia]]
+**[[Retinitis pigmentosa]]
+**[[Cardiomyopathy]]
+**[[Heart block]]
+|-
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Maternally inherited diabetes and deafness (MIDD)]]'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" | [[Mitochondrial]] inheritence
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" | MT‑TL1 defect
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Presents with:
+**[[Diabetes mellitus]]
+**[[Deafness]]
+|-
+| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Mitochondrial enzyme deficiencies'''
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Mitochondrial trifunctional protein deficiency]] ([[MTP deficiency]])'''<ref name="pmid16523289">{{cite journal |vauthors=Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO |title=Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency |journal=Eur. J. Pediatr. |volume=165 |issue=6 |pages=389–91 |year=2006 |pmid=16523289 |doi=10.1007/s00431-005-0052-5 |url=}}</ref><ref name="urlmitochondrial trifunctional protein deficiency - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency |title=mitochondrial trifunctional protein deficiency - Genetics Home Reference |format= |work= |accessdate=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" | [[Autosomal recessive]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" | [[HADHA]] or [[HADHB]] [[gene]] [[mutation]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Clinical features of [[mitochondrial trifunctional protein deficiency]] occurring:
+** During [[Infancy|infancy]] include:
+***[[Feeding difficulties]]
+***[[Lethargy]]
+***[[Hypoglycemia]]
+***[[Hypotonia]]
+***[[Liver disease|Liver problems]]
+**After [[infancy]] include:
+***[[Hypotonia]]
+***[[Muscle pain]]
+***Breakdown of [[muscle]] [[Tissue (biology)|tissue]]
+***[[Peripheral neuropathy]]
+*[[Infant|Infants]] with [[mitochondrial trifunctional protein deficiency]] are also at increased risk for:
+**Serious [[heart]] problems
+**[[Breathing difficulties]]
+**[[Coma]]
+**[[Sudden death]]
+|-
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] ([[LCHAD deficiency]])'''<ref name="pmid9403664">{{cite journal |vauthors=Tyni T, Rapola J, Palotie A, Pihko H |title=Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation |journal=J. Pediatr. |volume=131 |issue=5 |pages=766–8 |year=1997 |pmid=9403664 |doi= |url=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |G1528C [[gene]] [[mutation]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Clinical features of [[LCHAD deficiency]] include:
+**[[Hypoglycemia]]
+**[[Hepatopathy]]
+**[[Hypotonia]]
+**[[Cardiomyopathy]]
+**[[Retinopathy]]
+|-
+| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Heavy metal storage disorders'''
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hemochromatosis]]'''<ref name="pmid24741460">{{cite journal |vauthors=Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC |title=Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis |journal=Endocrinol Metab (Seoul) |volume=29 |issue=1 |pages=91–5 |year=2014 |pmid=24741460 |pmc=3970271 |doi=10.3803/EnM.2014.29.1.91 |url=}}</ref><ref name="urlhereditary hemochromatosis - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis |title=hereditary hemochromatosis - Genetics Home Reference |format= |work= |accessdate=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autosomal recessive]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[HFE]] [[gene mutation]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Early symptoms of [[hereditary hemochromatosis]] are nonspecific and may include:
+**[[Fatigue]]
+**[[Arthralgia|Joint pain]]
+**[[Abdominal pain]]
+**[[Decreased libido]]
+*Late stage clinical features may include:
+**[[Arthritis]]
+**[[Liver disease]]
+**[[Diabetes]]
+**[[Heart]] abnormalities
+**[[Skin discoloration]]
+|-
+| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Wilson's disease]]'''<ref name="pmid6888480">{{cite journal |vauthors=Carpenter TO, Carnes DL, Anast CS |title=Hypoparathyroidism in Wilson's disease |journal=N. Engl. J. Med. |volume=309 |issue=15 |pages=873–7 |year=1983 |pmid=6888480 |doi=10.1056/NEJM198310133091501 |url=}}</ref><ref name="urlWilson disease - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/wilson-disease#definition |title=Wilson disease - Genetics Home Reference |format= |work= |accessdate=}}</ref>
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" | [[Autosomal recessive]]
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" | [[ATP7B]] [[gene]] [[mutation]]
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Clinical features of [[Wilson's disease]] include:
+**Initial feature
+***Children and young adults:[[Liver disease]]
+***Adults: [[Nervous system disease|Nervous system disorders]] and [[Psychiatric Disorders|psychiatric disorders]]
+*Other clinical features include:
+**[[Clumsiness]]
+**[[Tremors]]
+**[[Difficulty walking]]
+**[[Speech problems]]
+**Impaired thinking ability
+**[[Depression]]
+**[[Anxiety]]
+**[[Mood swings]]
+|}
 ==Associated Conditions==
+Conditions associated with hypoparathyroidism include:<ref name="pmid2348835">{{cite journal |vauthors=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J |title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients |journal=N. Engl. J. Med. |volume=322 |issue=26 |pages=1829–36 |year=1990 |pmid=2348835 |doi=10.1056/NEJM199006283222601 |url=}}</ref><ref name="pmid278036722">{{cite journal |vauthors=Roszko KL, Bi RD, Mannstadt M |title=Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 |journal=Front Physiol |volume=7 |issue= |pages=458 |year=2016 |pmid=27803672 |pmc=5067375 |doi=10.3389/fphys.2016.00458 |url=}}</ref><ref name="pmid17048213">{{cite journal |vauthors=Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L |title=Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome |journal=J. Nephrol. |volume=19 |issue=4 |pages=525–8 |year=2006 |pmid=17048213 |doi= |url=}}</ref><ref name="pmid25932037">{{cite journal |vauthors=Choi KH, Shin CH, Yang SW, Cheong HI |title=Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C |journal=Korean J Pediatr |volume=58 |issue=4 |pages=148–53 |year=2015 |pmid=25932037 |pmc=4414630 |doi=10.3345/kjp.2015.58.4.148 |url=}}</ref><ref name="pmid21049214">{{cite journal |vauthors=Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM |title=DiGeorge Syndrome: a not so rare disease |journal=Clinics (Sao Paulo) |volume=65 |issue=9 |pages=865–9 |year=2010 |pmid=21049214 |pmc=2954737 |doi= |url=}}</ref><ref name="pmid21995344">{{cite journal |vauthors=Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E |title=Unique phenotype in a patient with CHARGE syndrome |journal=Int J Pediatr Endocrinol |volume=2011 |issue= |pages=11 |year=2011 |pmid=21995344 |pmc=3216247 |doi=10.1186/1687-9856-2011-11 |url=}}</ref><ref name="pmid23087875">{{cite journal |vauthors=Metwalley KA, Farghaly HS |title=Kenny-Caffey syndrome type 1 in an Egyptian girl |journal=Indian J Endocrinol Metab |volume=16 |issue=5 |pages=827–9 |year=2012 |pmid=23087875 |pmc=3475915 |doi=10.4103/2230-8210.100645 |url=}}</ref><ref name="pmid23996431">{{cite journal |vauthors=Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S |title=A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 |journal=J. Bone Miner. Res. |volume=29 |issue=4 |pages=992–8 |year=2014 |pmid=23996431 |doi=10.1002/jbmr.2091 |url=}}</ref><ref name="pmid22043344">{{cite journal |vauthors=Rafique B, Al-Yaarubi S |title=Sanjad-Sakati Syndrome in Omani children |journal=Oman Med J |volume=25 |issue=3 |pages=227–9 |year=2010 |pmid=22043344 |pmc=3191633 |doi=10.5001/omj.2010.63 |url=}}</ref><ref name="pmid11389161">{{cite journal |vauthors=Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T |title=GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |journal=J. Med. Genet. |volume=38 |issue=6 |pages=374–80 |year=2001 |pmid=11389161 |pmc=1734904 |doi= |url=}}</ref><ref name="pmid10935639">{{cite journal |vauthors=Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K |title=GATA3 haplo-insufficiency causes human HDR syndrome |journal=Nature |volume=406 |issue=6794 |pages=419–22 |year=2000 |pmid=10935639 |doi=10.1038/35019088 |url=}}</ref><ref name="pmid27716753">{{cite journal |vauthors=Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S |title=Mitochondrial disease and endocrine dysfunction |journal=Nat Rev Endocrinol |volume=13 |issue=2 |pages=92–104 |year=2017 |pmid=27716753 |doi=10.1038/nrendo.2016.151 |url=}}</ref><ref name="pmid16523289">{{cite journal |vauthors=Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO |title=Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency |journal=Eur. J. Pediatr. |volume=165 |issue=6 |pages=389–91 |year=2006 |pmid=16523289 |doi=10.1007/s00431-005-0052-5 |url=}}</ref><ref name="pmid9403664">{{cite journal |vauthors=Tyni T, Rapola J, Palotie A, Pihko H |title=Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation |journal=J. Pediatr. |volume=131 |issue=5 |pages=766–8 |year=1997 |pmid=9403664 |doi= |url=}}</ref><ref name="pmid24741460">{{cite journal |vauthors=Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC |title=Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis |journal=Endocrinol Metab (Seoul) |volume=29 |issue=1 |pages=91–5 |year=2014 |pmid=24741460 |pmc=3970271 |doi=10.3803/EnM.2014.29.1.91 |url=}}</ref><ref name="pmid6888480">{{cite journal |vauthors=Carpenter TO, Carnes DL, Anast CS |title=Hypoparathyroidism in Wilson's disease |journal=N. Engl. J. Med. |volume=309 |issue=15 |pages=873–7 |year=1983 |pmid=6888480 |doi=10.1056/NEJM198310133091501 |url=}}</ref>
+*[[Autoimmune polyendocrine syndrome type 1]]
+*[[Autosomal dominant hypocalcemia]] type 1
+*[[Autosomal dominant hypocalcemia]] type 2
+*Bartter syndrome type 5
+*[[DiGeorge syndrome]]
+*[[CHARGE syndrome]]
+*[[Kenny-Caffey syndrome type 1]]
+*[[Kenny-Caffey syndrome type 2]]
+*[[Sanjad-Sakati syndrome]]
+*[[Barakat syndrome]]
+*[[Kearns–Sayre syndrome]]
+*Maternally inherited [[diabetes]] and [[deafness]] (MIDD)
+*[[Mitochondrial trifunctional protein deficiency]] ([[MTP deficiency]])
+*[[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] ([[LCHAD deficiency]])
+*[[Hemochromatosis]]
+*[[Wilson's disease]]
 ==Gross Pathology==
-*On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
+*There is no gross pathology findings for hypoparathyroidism.
 ==Microscopic Pathology==
-*On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
+*There is no microscopic pathology findings for hypoparathyroidism.
 ==References==
@@ Line 171: / Line 375: @@
 {{WH}}
 {{WS}}
+[[Category:Disease]]
+[[Category:Medicine]]
+[[Category:Endocrinology]]
+[[Category:Parathyroid disorders]]
+[[Category:Up-To-Date]]