Growth hormone deficiency screening: Difference between revisions
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| pmid = 11095419 | | pmid = 11095419 | ||
}}</ref> === | }}</ref> === | ||
**Early onset of growth failure | **Early onset of [[growth failure]] | ||
**Positive family history and possible consanguinity | **Positive family history and possible [[consanguinity]] | ||
**Height more than 3 sd below the mean | **Height more than 3 sd 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 | **Extremely low GH response to provocation tests, including [[Growth hormone-releasing hormone|GHRH]], and very low [[Insulin-like growth factor-I|IGF-I]] and IGF-binding protein-3 ([[IGFBP3|IGFBP-3]]) levels | ||
* GHD patients have been screened for mutations in the GH1 and GHRH gene.<ref>{{Cite journal | * GHD patients have been screened for mutations in the GH1 and [[Growth hormone-releasing hormone|GHRH]] gene.<ref>{{Cite journal | ||
| author = [[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]] | | author = [[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]] | ||
| title = Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency | | title = Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency | ||
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}}</ref> | }}</ref> | ||
* A recent study recommended testing for GH1 and GHRHR mutations in children with severe GHD and a family history of GHD.<ref>{{Cite journal | * A recent study recommended testing for GH1 and [[Growth hormone releasing hormone receptor|GHRHR]] mutations in children with severe GHD and a family history of GHD.<ref>{{Cite journal | ||
| author = [[J. M. Wit]], [[W. Kiess]] & [[P. Mullis]] | | author = [[J. M. Wit]], [[W. Kiess]] & [[P. Mullis]] | ||
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| pmid = 21396571 | | pmid = 21396571 | ||
}}</ref> | }}</ref> | ||
* The patient with HMGA2 mutation had severe short stature, low IGF-I, abnormal response to | * The patient with [[HMGA2]] mutation had severe short stature, low [[Insulin-like growth factor-I|IGF-I]], abnormal response to GH stimulation testing, and abnormal [[Magnetic resonance imaging|MRI]], and responded well to growth hormone therapy.<ref>{{Cite journal | ||
| author = [[Darya Gorbenko del Blanco]], [[Laura C. G. de Graaff]], [[Dirk Posthouwer]], [[Theo J. Visser]] & [[Anita C. S. Hokken-Koelega]] | | author = [[Darya Gorbenko del Blanco]], [[Laura C. G. de Graaff]], [[Dirk Posthouwer]], [[Theo J. Visser]] & [[Anita C. S. Hokken-Koelega]] | ||
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| doi = 10.1530/EJE-11-0478 | | doi = 10.1530/EJE-11-0478 | ||
| pmid = 21803798 | | pmid = 21803798 | ||
}}</ref> 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.<ref>{{Cite journal | }}</ref> The importance of the [[HMGA2]] gene in growth has been described through a study of patients with 12q14 [[Microdeletion|microdeletion syndrome]], which is characterized by developmental delay, severe short stature, and abnormal facies.<ref>{{Cite journal | ||
| author = [[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]] | | author = [[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]] | ||
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| pmid = 21267005 | | pmid = 21267005 | ||
}}</ref> | }}</ref> | ||
* Testing for a polymorphism in the IGFBP-3 gene may also aid in the diagnosis of GHD and prediction of response to therapy. <ref>{{Cite journal | * Testing for a [[polymorphism]] in the [[IGFBP3|IGFBP-3]] gene may also aid in the diagnosis of GHD and prediction of response to therapy. <ref>{{Cite journal | ||
| author = [[J. A. 3rd Phillips]] & [[J. D. Cogan]] | | author = [[J. A. 3rd Phillips]] & [[J. D. Cogan]] | ||
Revision as of 19:12, 18 August 2017
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Growth hormone deficiency Microchapters |
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Differentiating Growth hormone deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Growth hormone deficiency screening On the Web |
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American Roentgen Ray Society Images of Growth hormone deficiency screening |
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Risk calculators and risk factors for Growth hormone deficiency screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Screening
Genetic screening indications:[1]
- Early onset of growth failure
- Positive family history and possible consanguinity
- Height more than 3 sd 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 GHRHR mutations in children with severe GHD and a family history of GHD.[3]
- The patient with 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 of genetic contributions to GHD opens the possibility for a more rational 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.