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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.[1] PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia and familial multiple pituitary hormone deficiencies.[2]
- Mutations of GH1 which is the gene encoding GH.[3]
- 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:[4]
- Optic nerve hypoplasia
- Midline facial defects
- Agenesis of corpus callosum
- Arachnoid cyst
- Holoprosencephaly
- Septo-optic dysplasia
- Encephalocele
- Empty sella syndrome
- Hydrocephalus
Acquired growth hormone deficiency[4]
- GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children.[5]
- Central nervous system infection
- Pituitary adenoma
- Craniopharyngioma
- Rathke’s cleft cyst
- Glioma/astrocytoma
- Germinoma
- Infiltrative/granulomatous disease:
- Langerhans cell histiocytosis
- Sarcoidosis
- Tuberculosis
- Hypophysitis[6]
- Surgery of the pituitary or hypothalamus
- Infarction
- Sheehan’s syndrome
- Idiopathic
Laron syndrome
- It is the most common known cause of genetically-mediated GHI.
- Growth hormone insensitivity is an absence of the biological effects of growth hormone despite a normal production of GH.
- In contrast with GH deficiency, Laron syndrome is characterized by growth failure and normal levels of GH.
- It is caused by mutations in the growth hormone (GH) receptor gene which affects the extracellular GH-binding of the receptor.
- Its severity correlates to IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.
References
- ↑ 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.
- ↑ Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N; et al. (2011). "Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects". Horm Res Paediatr. 76 (5): 348–54. doi:10.1159/000332693. PMID 22024773.
- ↑ Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM; et al. (1998). "Mutations in PROP1 cause familial combined pituitary hormone deficiency". Nat Genet. 18 (2): 147–9. doi:10.1038/ng0298-147. PMID 9462743.
- ↑ 4.0 4.1 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.
- ↑ Snyder PJ, Fowble BF, Schatz NJ, Savino PJ, Gennarelli TA (1986). "Hypopituitarism following radiation therapy of pituitary adenomas". Am J Med. 81 (3): 457–62. PMID 3092668.
- ↑ Cheung CC, Ezzat S, Smyth HS, Asa SL (2001). "The spectrum and significance of primary hypophysitis". J Clin Endocrinol Metab. 86 (3): 1048–53. doi:10.1210/jcem.86.3.7265. PMID 11238484.