Growth hormone deficiency causes: Difference between revisions
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==== Genetic causes ==== | ==== Genetic causes ==== | ||
It is usually recognized by the presence of affected relatives and confirmed by molecular testing for the causative genes, which include ''POU1F1'', ''PROP-1'', and ''GH-1:'' | It is usually recognized by the presence of affected relatives and confirmed by molecular testing for the causative genes, which include ''POU1F1'', ''PROP-1'', and ''GH-1:'' | ||
* The ''POU1F1'' gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor. | * The ''POU1F1'' gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor. ''PROP1'' mutations result in failure to activate ''POU1F1/Pit1'' gene expression and probably cause pituitary hypoplasia and familial multiple pituitary hormone deficiencies. | ||
* Mutations of ''GH1 which is'' the gene encoding GH. | * Mutations of ''GH1 which is'' the gene encoding GH. | ||
* Gene deletions, frameshift mutations, and nonsense mutations of ''GH1'' have been described as causes of familial GHD. | * Gene deletions, frameshift mutations, and nonsense mutations of ''GH1'' have been described as causes of familial GHD. | ||
==== '''Structural causes''' ==== | ==== '''Structural causes''' ==== | ||
* GHD is highly likely to be permanent in these patients | * GHD is highly likely to be permanent in these patients | ||
* It is associated with midline craniofacial anomalies causing agenesis of the hypothalamic-pituitary stalk: | * It is associated with midline craniofacial anomalies causing agenesis of the hypothalamic-pituitary stalk: | ||
* Optic nerve hypoplasia | * Optic nerve hypoplasia | ||
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=== '''Acquired growth hormone deficiency'''<ref name="pmid21602453" /> === | === '''Acquired growth hormone deficiency'''<ref name="pmid21602453" /> === | ||
* GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children. | * GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children. | ||
* Central nervous system infection | * Central nervous system infection | ||
* Tumors of hypothalamus or pituitary | * Tumors of hypothalamus or pituitary | ||
* Pituitary adenoma | * Pituitary adenoma<ref name="pmid262524542">{{cite journal| author=Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R et al.| title=Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis. | journal=J Neurosurg | year= 2016 | volume= 124 | issue= 3 | pages= 589-95 | pmid=26252454 | doi=10.3171/2015.1.JNS141543 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26252454 }}</ref> | ||
* Craniopharyngioma | * Craniopharyngioma | ||
* Rathke’s cleft cyst | * Rathke’s cleft cyst | ||
| Line 42: | Line 42: | ||
* Infiltrative/granulomatous disease: | * Infiltrative/granulomatous disease: | ||
* Langerhans cell histiocytosis | * Langerhans cell histiocytosis | ||
* Sarcoidosis | * Sarcoidosis<ref name="pmid21593109">{{cite journal| author=Leporati P, Landek-Salgado MA, Lupi I, Chiovato L, Caturegli P| title=IgG4-related hypophysitis: a new addition to the hypophysitis spectrum. | journal=J Clin Endocrinol Metab | year= 2011 | volume= 96 | issue= 7 | pages= 1971-80 | pmid=21593109 | doi=10.1210/jc.2010-2970 | pmc=3135201 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21593109 }}</ref> | ||
* Tuberculosis | * Tuberculosis | ||
* Hypophysitis<ref name=" | * Hypophysitis | ||
* Surgery of the pituitary or hypothalamus<ref name="pmid26252454">{{cite journal| author=Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R et al.| title=Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis. | journal=J Neurosurg | year= 2016 | volume= 124 | issue= 3 | pages= 589-95 | pmid=26252454 | doi=10.3171/2015.1.JNS141543 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26252454 }}</ref> | |||
* Infarction | * Infarction | ||
* Spontaneous | * Spontaneous | ||
* Sheehan’s syndrome | * Sheehan’s syndrome<ref name="pmid15237929">{{cite journal| author=Keleştimur F| title=Sheehan's syndrome. | journal=Pituitary | year= 2003 | volume= 6 | issue= 4 | pages= 181-8 | pmid=15237929 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15237929 }}</ref> | ||
* Idiopathic | * Idiopathic | ||
==== '''Laron syndrome''' ==== | ==== '''Laron syndrome'''<ref name="pmid26401581">{{cite journal| author=Laron Z| title=LESSONS FROM 50 YEARS OF STUDY OF LARON SYNDROME. | journal=Endocr Pract | year= 2015 | volume= 21 | issue= 12 | pages= 1395-402 | pmid=26401581 | doi=10.4158/EP15939.RA | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26401581 }}</ref> ==== | ||
* | * It is the most common cause of genetically-mediated GHI. | ||
* | * Growth hormone insensitivity is an absence of the biological effects of growth hormone despite the normal production of GH. | ||
* | * In contrast with GH deficiency, Laron syndrome shows growth failure with a high level of GH. | ||
* It is caused by | * It is caused by mutations in the growth hormone receptor gene.<ref name="pmid7565946">{{cite journal| author=Goddard AD, Covello R, Luoh SM, Clackson T, Attie KM, Gesundheit N et al.| title=Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. | journal=N Engl J Med | year= 1995 | volume= 333 | issue= 17 | pages= 1093-8 | pmid=7565946 | doi=10.1056/NEJM199510263331701 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7565946 }}</ref> | ||
* | * Its severity correlates with IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.<ref name="pmid2760171">{{cite journal| author=Martha PM, Rogol AD, Veldhuis JD, Kerrigan JR, Goodman DW, Blizzard RM| title=Alterations in the pulsatile properties of circulating growth hormone concentrations during puberty in boys. | journal=J Clin Endocrinol Metab | year= 1989 | volume= 69 | issue= 3 | pages= 563-70 | pmid=2760171 | doi=10.1210/jcem-69-3-563 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2760171 }}</ref> | ||
== References == | == References == | ||
<references /> | <references /> | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Causes of growth hormone deficiency could be congenital or acquired. Congenital causes include genetic mutations in POU1F1, PROP-1, and GH-1 genes. Structural causes can cause growth hormone deficiency such as optic nerve hypoplasia, agenesis of corpus callosum, septo-optic dysplasia, empty sella syndrome, and holoprosencephaly. Acquired causes can cause growth hormone deficiency such as GHD following brain surgery and radiation therapy for brain tumors, central nervous system infection, craniopharyngioma, pituitary adenoma.
Causes
Congenital growth hormone deficiency:
Genetic causes
It is usually recognized by the presence of affected relatives and confirmed by molecular testing for the causative genes, which include POU1F1, PROP-1, and GH-1:
- The POU1F1 gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor. PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia and familial multiple pituitary hormone deficiencies.
- Mutations of GH1 which is the gene encoding GH.
- Gene deletions, frameshift mutations, and nonsense mutations of GH1 have been described as causes of familial GHD.
Structural causes
- GHD is highly likely to be permanent in these patients
- It is associated with midline craniofacial anomalies causing agenesis of the hypothalamic-pituitary stalk:
- Optic nerve hypoplasia
- Midline facial defects
- Agenesis of corpus callosum
- Arachnoid cyst
- Holoprosencephaly
- Septo-optic dysplasia
- Encephalocele
- Empty sella syndrome
- Single central incisor
- Hydrocephalus
Acquired growth hormone deficiency[1]
- GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children.
- Central nervous system infection
- Tumors of hypothalamus or pituitary
- Pituitary adenoma[2]
- Craniopharyngioma
- Rathke’s cleft cyst
- Glioma/astrocytoma
- Germinoma
- Infiltrative/granulomatous disease:
- Langerhans cell histiocytosis
- Sarcoidosis[3]
- Tuberculosis
- Hypophysitis
- Surgery of the pituitary or hypothalamus[4]
- Infarction
- Spontaneous
- Sheehan’s syndrome[5]
- Idiopathic
Laron syndrome[6]
- It is the most common cause of genetically-mediated GHI.
- Growth hormone insensitivity is an absence of the biological effects of growth hormone despite the normal production of GH.
- In contrast with GH deficiency, Laron syndrome shows growth failure with a high level of GH.
- It is caused by mutations in the growth hormone receptor gene.[7]
- Its severity correlates with IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.[8]
References
- ↑
- ↑ Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R; et al. (2016). "Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis". J Neurosurg. 124 (3): 589–95. doi:10.3171/2015.1.JNS141543. PMID 26252454.
- ↑ Leporati P, Landek-Salgado MA, Lupi I, Chiovato L, Caturegli P (2011). "IgG4-related hypophysitis: a new addition to the hypophysitis spectrum". J Clin Endocrinol Metab. 96 (7): 1971–80. doi:10.1210/jc.2010-2970. PMC 3135201. PMID 21593109.
- ↑ Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R; et al. (2016). "Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis". J Neurosurg. 124 (3): 589–95. doi:10.3171/2015.1.JNS141543. PMID 26252454.
- ↑ Keleştimur F (2003). "Sheehan's syndrome". Pituitary. 6 (4): 181–8. PMID 15237929.
- ↑ Laron Z (2015). "LESSONS FROM 50 YEARS OF STUDY OF LARON SYNDROME". Endocr Pract. 21 (12): 1395–402. doi:10.4158/EP15939.RA. PMID 26401581.
- ↑ Goddard AD, Covello R, Luoh SM, Clackson T, Attie KM, Gesundheit N; et al. (1995). "Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group". N Engl J Med. 333 (17): 1093–8. doi:10.1056/NEJM199510263331701. PMID 7565946.
- ↑ Martha PM, Rogol AD, Veldhuis JD, Kerrigan JR, Goodman DW, Blizzard RM (1989). "Alterations in the pulsatile properties of circulating growth hormone concentrations during puberty in boys". J Clin Endocrinol Metab. 69 (3): 563–70. doi:10.1210/jcem-69-3-563. PMID 2760171.