Growth hormone deficiency causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Causes
Congenital growth hormone deficiency:
Genetic
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 [11,12]. PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia and/or familial multiple pituitary hormone deficiencies.[1]
- Deletions and mutations of GH1 are the gene encoding GH, located on chromosome 17. Gene deletions, frameshift mutations, and nonsense mutations of GH1 have been described as causes of familial GHD.
Structural causes
It is associated with midline craniofacial anomalies such as optic nerve hypoplasia causing agenesis of the hypothalamic-pituitary stalk. GHD is highly likely to be permanent in these patients.[2]
Organic causes
GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children.[3]
Adult growth hormone deficiency[4]
- Treatment of a pituitary tumor including surgery and/or radiation
- An extra-pituitary tumor for example craniopharyngioma
- Sheehan syndrome
Laron syndrome
- It is the most common known cause of genetically-mediated GHI.[5]
- is characterized by severe postnatal growth failure.
- It is caused by homozygous or compound heterozygous mutations in the growth hormone (GH) receptor gene; a variety of mutations have been identified, most of which affect the extracellular GH-binding region of the receptor.[6]
- reflected by IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.[7]
- Adult height does not correlate with genotype or with measures of height in family members.
- hyperlipidemia and episodes of hypoglycemia Data are conflicting on the risk of insulin resistance.[8]
- ↑ Li S, Crenshaw EB, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG (1990). "Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1". Nature. 347 (6293): 528–33. doi:10.1038/347528a0. PMID 1977085.
- ↑ Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML, Endocrine Society (2011). "Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline". J Clin Endocrinol Metab. 96 (6): 1587–609. doi:10.1210/jc.2011-0179. PMID 21602453.
- ↑ Hartman ML, Crowe BJ, Biller BM, Ho KK, Clemmons DR, Chipman JJ; et al. (2002). "Which patients do not require a GH stimulation test for the diagnosis of adult GH deficiency?". J Clin Endocrinol Metab. 87 (2): 477–85. doi:10.1210/jcem.87.2.8216. PMID 11836272.
- ↑ Bates AS, Van't Hoff W, Jones PJ, Clayton RN (1996). "The effect of hypopituitarism on life expectancy". J Clin Endocrinol Metab. 81 (3): 1169–72. doi:10.1210/jcem.81.3.8772595. PMID 8772595.
- ↑ Laron Z, Pertzelan A, Mannheimer S (1966). "Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?". Isr J Med Sci. 2 (2): 152–5. PMID 5916640.
- ↑ 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.
- ↑ Rosenbloom AL, Guevara-Aguirre J (1998). "Lessons from the genetics of laron syndrome". Trends Endocrinol Metab. 9 (7): 276–83. PMID 18406284.
- ↑ Guevara-Aguirre J, Balasubramanian P, Guevara-Aguirre M, Wei M, Madia F, Cheng CW; et al. (2011). "Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans". Sci Transl Med. 3 (70): 70ra13. doi:10.1126/scitranslmed.3001845. PMC 3357623. PMID 21325617.