Growth hormone deficiency screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohammed Abdelwahed M.D[2]
Overview
Genetic screening of growth hormone deficiency(GHD) is indicated for patients with early and severe symptoms. GHD patients have been screened for mutations in the GH1 and GHRH gene. Understanding the genetic contributions to GHD opens the possibility for a more reasonable approach to the diagnosis and management of GHD.
Screening
- Genetic screening indications:[1]
- Early onset of growth failure
- Positive family history and possible consanguinity
- Height of 3 standard deviations or more below the mean
- Extremely low GH response to provocation tests, including GHRH, and very low IGF-I and IGF-binding protein-3 (IGFBP-3) levels
- A recent study recommended testing for GH1 and GHRH mutations in children with severe GHD and a family history of GHD.[3]
- The patient with the HMGA2 mutation had severe short stature, low IGF-I, abnormal response to GH stimulation testing, and abnormal MRI, and responded well to growth hormone therapy.[4]
- The importance of the HMGA2 gene in growth has been described through a study of patients with 12q14 microdeletion syndrome, which is characterized by developmental delay, severe short stature, and abnormal facies.[5]
- Testing for a polymorphism in the IGFBP-3 gene may also aid in the diagnosis of GHD and prediction of response to therapy. [6]
- Understanding the genetic basis of GHD opens the possibility for a more advanced approach to the diagnosis and management of GHD.[7]
References
- ↑ "Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society". The Journal of clinical endocrinology and metabolism. 85 (11): 3990–3993. 2000. doi:10.1210/jcem.85.11.6984. PMID 11095419.
- ↑ Marcela M. Franca, Alexander A. L. Jorge, Kyriaki S. Alatzoglou, Luciani R. S. Carvalho, Berenice B. Mendonca, Laura Audi, Antonio Carrascosa, Mehul T. Dattani & Ivo J. P. Arnhold (2011). "Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency". The Journal of clinical endocrinology and metabolism. 96 (9): E1457–E1460. doi:10.1210/jc.2011-0170. PMID 21715545.
- ↑ J. M. Wit, W. Kiess & P. Mullis (2011). "Genetic evaluation of short stature". Best practice & research. Clinical endocrinology & metabolism. 25 (1): 1–17. doi:10.1016/j.beem.2010.06.007. PMID 21396571.
- ↑ Darya Gorbenko del Blanco, Laura C. G. de Graaff, Dirk Posthouwer, Theo J. Visser & Anita C. S. Hokken-Koelega (2011). "Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes". European journal of endocrinology. 165 (4): 537–544. doi:10.1530/EJE-11-0478. PMID 21803798.
- ↑ Sally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, Amanda L. Collins, Goran Anneren, Bernt-Oves Hedberg, Carol A. Delaney, James Iremonger, Caroline M. Murray, John A. Crolla, Colm Costigan, Wayne Lam, David R. Fitzpatrick, Regina Regan, Sean Ennis & Freddie Sharkey (2011). "The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth". European journal of human genetics : EJHG. 19 (5): 534–539. doi:10.1038/ejhg.2010.215. PMID 21267005.
- ↑ J. A. 3rd Phillips & J. D. Cogan (1994). "Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency". The Journal of clinical endocrinology and metabolism. 78 (1): 11–16. doi:10.1210/jcem.78.1.8288694. PMID 8288694.
- ↑ Takara Stanley (2012). "Diagnosis of growth hormone deficiency in childhood". Current opinion in endocrinology, diabetes, and obesity. 19 (1): 47–52. doi:10.1097/MED.0b013e32834ec952. PMID 22157400.