Hypoparathyroidism causes
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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
Hypothyroidism most commonly occurs as a complication of neck surgery including thyroidectomy, parathyroidectomy, and radical neck dissection. Second most common cause for hypoparathyroidism is autoimmune including polyglandular autoimmune syndrome type 1 and isolated autoimmune hypoparathyroidism. Less common causes of hypoparathyroidism includes infiltration and/or destruction of parathyroid glands and genetic causes. Most common genetic cause of hypoparathyroidism is calcium-sensing receptor gene activating mutation.
Causes
Life Threatening Causes
Life threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. Life threatening cause for hypoparathyroidism incude:
- Metastatic cancer to parathyroid glands
Common Causes
- Post-surgical (most common cause)[1]
- Autoimmune (2nd most common cause)[2]
- Polyglandular autoimmune syndrome type 1
- Also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or acquired hypoparathyroidism associated with autoimmune hypothyroidism
- Isolated autoimmune hypoparathyroidism
- Polyglandular autoimmune syndrome type 1
Less Common Causes
- Infiltration and/or destruction of parathyroid glands
- Metal overload
- Iron overload[3]
- Hemochromatosis
- Thalassemia (due to repeated blood transfusion) [4]
- Copper overload[5]
- Aluminium deposition[6]
- Usually seen in patients with end-stage renal disease on hemodialysis
- Hypermagnesemia[7]
- Iron overload[3]
- Radiation-induced destruction parathyroid glands[8]
- Hypomagnesemia[9]
- Metastatic cancer to parathyroid glands including:[10][11]
- Granulomas infiltrating parathyroid glands[12]
- Amyloid deposition in all four parathyroid gland[13]
- Infections
- Metal overload
- Maternal hyperparathyroidism leading to neonatal hypoparathyroidism[16]
- Genetic causes
Genetic Causes
- Autoimmune
- Isolated hypoparathyroidism
- Autosomal dominant inheritence
- Autosomal dominant familial isolated hypoparathyroidism caused by PTH gene mutation[18]
- Autosomal dominant familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation[19]
- Autosomal dominant hypocalcemia[20]
- Autosomal dominant hypocalcemia type 1 (Most common genetic form): Calcium-sensing receptor gene activating mutation.
- Autosomal dominant hypocalcemia type 2 : G protein G11 (GNA11) mutation.
- Autosomal recessive inheritence
- Autosomal recessive familial isolated hypoparathyroidism caused by PTH gene mutation[21]
- Autosomal recessive familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation[22][19]
- X-linked inheritence
- Autosomal dominant inheritence
- Congenital multisystem syndromes
- DiGeorge syndrome: 22q11.2 deletion[24]
- CHARGE syndrome: CHD7 G744S missense mutation[25]
- Kenny-Caffey syndrome type 1: Deletion of the TBCE gene[26]
- Kenny-Caffey syndrome type 2: Mutation of FAM111A gene[27]
- Sanjad-Sakati syndrome: Mutation in TBCE gene[28]
- Barakat syndrome: Mutations in the GATA3 gene[29][30]
- Metabolic diseases
- Mitochondrial polyneuropathies[31]
- Mitochondrial enzyme deficiencies
- Heavy metal storage disorders
Causes by Organ System
| Cardiovascular | No underlying causes |
| Chemical/Poisoning | No underlying causes |
| Dental | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | No underlying causes |
| Ear Nose Throat | No underlying causes |
| Endocrine | Polyglandular autoimmune syndrome type 1, Isolated autoimmune hypoparathyroidism |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | Wilson's disease, autosomal dominant familial isolated hypoparathyroidism caused by PTH gene mutation, autosomal dominant familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation, autosomal dominant hypocalcemia type 1, autosomal dominant hypocalcemia type 2, Autosomal recessive familial isolated hypoparathyroidism caused by PTH gene mutation, Autosomal recessive familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation, X-linked recessive familial isolated hypoparathyroidism hypoparathyroidism,22q11.2 deletion syndrome, DiGeorge syndrome, 22q11.2DS, CATCH 22 syndrome, Cayler cardiofacial syndrome, conotruncal anomaly face syndrome (CTAF), deletion 22q11.2 syndrome, Sedlackova syndrome, Shprintzen syndrome, VCFS, velocardiofacial syndrome, velo-cardio-facial syndrome, CHARGE syndrome, Kenny-Caffey syndrome type 1, Kenny-Caffey syndrome type 2, Sanjad-Sakati syndrome, Barakat syndrome, [[chromosome 10, monosomy 10p], and chromosome 10p deletion 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), |
| Hematologic | Hemochromatosis, Thalassemia |
| Iatrogenic | Parathyroidectomy, radiation-induced parathyroid destruction, radical neck dissection, thyroidectomy |
| Infectious Disease | HIV infection, syphilis |
| Musculoskeletal/Orthopedic | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional/Metabolic | No underlying causes |
| Obstetric/Gynecologic | Maternal hyperparathyroidism leading to neonatal hypoparathyroidism |
| Oncologic | Metastatic prostate cancer, metastatic breast cancer |
| Ophthalmologic | No underlying causes |
| Overdose/Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal/Electrolyte | Aluminium deposition due to end-stage renal disease on hemodialysis, Hypermagnesemia, Hypomagnesemia |
| Rheumatology/Immunology/Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | Granulomas infiltrating parathyroid glands, amyloid deposition in all four parathyroid gland |
Causes in Alphabetical Order
- 22q11.2DS
- 22q11.2 deletion syndrome
- Aluminium deposition due to end-stage renal disease on hemodialysis, Hypermagnesemia, Hypomagnesemia
- Amyloid deposition in all four parathyroid gland
- Autosomal dominant familial isolated hypoparathyroidism caused by PTH gene mutation
- Autosomal dominant familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation
- Autosomal dominant hypocalcemia type 1
- Autosomal dominant hypocalcemia type 2
- Autosomal recessive familial isolated hypoparathyroidism caused by PTH gene mutation
- Autosomal recessive familial isolated hypoparathyroidism caused by glial cells missing 2 (GCM2) gene mutation
- Barakat syndrome
- CATCH 22 syndrome
- Cayler cardiofacial syndrome
- CHARGE syndrome
- Chromosome 10, monosomy 10p
- Chromosome 10p deletion syndrome
- Chromosome 22q deletion
- Conotruncal anomaly face syndrome (CTAF)
- Deletion 22q11.2 syndrome
- DiGeorge syndrome
- Hemochromatosis
- HIV infection
- Granulomas infiltrating parathyroid glands
- Isolated autoimmune hypoparathyroidism
- Kenny-Caffey syndrome type 1
- Kenny-Caffey syndrome type 2
- Kearns–Sayre syndrome
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)
- Maternal hyperparathyroidism leading to neonatal hypoparathyroidism
- Maternally inherited diabetes and deafness (MIDD)
- Metastatic prostate cancer
- Metastatic breast cancer
- Mitochondrial trifunctional protein deficiency (MTP deficiency)
- Parathyroidectomy
- Polyglandular autoimmune syndrome type 1
- Radiation-induced parathyroid destruction
- Radical neck dissection
- Sanjad-Sakati syndrome
- Sedlackova syndrome
- Shprintzen syndrome
- Syphilis
- Thalassemia
- Thyroidectomy
- VCFS
- Velocardiofacial syndrome
- Velo-cardio-facial syndrome
- Wilson's disease
- X-linked recessive familial isolated hypoparathyroidism hypoparathyroidism
References
- ↑ Marx SJ (2000). "Hyperparathyroid and hypoparathyroid disorders". N. Engl. J. Med. 343 (25): 1863–75. doi:10.1056/NEJM200012213432508. PMID 11117980.
- ↑ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
- ↑ 3.0 3.1 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.
- ↑ Angelopoulos NG, Goula A, Rombopoulos G, Kaltzidou V, Katounda E, Kaltsas D, Tolis G (2006). "Hypoparathyroidism in transfusion-dependent patients with beta-thalassemia". J. Bone Miner. Metab. 24 (2): 138–45. doi:10.1007/s00774-005-0660-1. PMID 16502121.
- ↑ 5.0 5.1 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.
- ↑ Burnatowska-Hledin MA, Kaiser L, Mayor GH (1983). "Aluminum, parathyroid hormone, and osteomalacia". Spec Top Endocrinol Metab. 5: 201–26. PMID 6422572.
- ↑ Navarro JF, Mora C, Jiménez A, Torres A, Macía M, García J (1999). "Relationship between serum magnesium and parathyroid hormone levels in hemodialysis patients". Am. J. Kidney Dis. 34 (1): 43–8. doi:10.1053/AJKD03400043. PMID 10401014.
- ↑ Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt MM, Bilezikian JP, Romanischen AF, Thakker RV (2016). "Epidemiology and Diagnosis of Hypoparathyroidism". J. Clin. Endocrinol. Metab. 101 (6): 2284–99. doi:10.1210/jc.2015-3908. PMC 5393595. PMID 26943720.
- ↑ Astor MC, Løvås K, Wolff AS, Nedrebø B, Bratland E, Steen-Johnsen J, Husebye ES (2015). "Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6". Endocr Connect. 4 (4): 215–22. doi:10.1530/EC-15-0066. PMC 4566842. PMID 26273099.
- ↑ Tandon PK, Rizvi AA (2005). "Hypocalcemia and parathyroid function in metastatic prostate cancer". Endocr Pract. 11 (4): 254–8. doi:10.4158/EP.11.4.254. PMID 16006299.
- ↑ Watanabe T, Adachi I, Kimura S, Yamaguchi K, Suzuki M, Shimada A, Abe K (1983). "A case of advanced breast cancer associated with hypocalcemia". Jpn. J. Clin. Oncol. 13 (2): 441–8. PMID 6887561.
- ↑ Abate EG, Clarke BL (2016). "Review of Hypoparathyroidism". Front Endocrinol (Lausanne). 7: 172. doi:10.3389/fendo.2016.00172. PMC 5237638. PMID 28138323.
- ↑ Picken, Maria (2015). "Chapter 7: The Parathyroid". Amyloid and related disorders : surgical pathology and clinical correlations. New York: Humana Press. p. 151. ISBN 978-3319192932.
- ↑ Becker, Kenneth (2001). "Chapter 60: Hypoparathyroidism and Other Causes of Hypocalcemia". Principles and practice of endocrinology and metabolism. Philadelphia London: Lippincott Williams & Wilkins. p. 592. ISBN 978-0781717502.
- ↑ Kuehn EW, Anders HJ, Bogner JR, Obermaier J, Goebel FD, Schlöndorff D (1999). "Hypocalcaemia in HIV infection and AIDS". J. Intern. Med. 245 (1): 69–73. PMID 10095819.
- ↑ Poomthavorn P, Ongphiphadhanakul B, Mahachoklertwattana P (2008). "Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism". Eur. J. Pediatr. 167 (4): 431–4. doi:10.1007/s00431-007-0528-6. PMID 17569990.
- ↑ 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.
- ↑ 19.0 19.1 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.