Growth hormone deficiency screening: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Growth hormone deficiency}} | {{Growth hormone deficiency}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{MAD}} | ||
==Overview== | ==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 [[Growth hormone-releasing hormone|GHRH]] [[gene]]. Understanding the [[Genetics|genetic]] contributions to GHD opens the possibility for a more reasonable approach to the diagnosis and management of GHD. | |||
==Screening== | ==Screening== | ||
* ''Genetic screening indications:''<ref>{{Cite journal | |||
| title = 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 | | title = 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 | ||
| Line 16: | Line 17: | ||
| doi = 10.1210/jcem.85.11.6984 | | doi = 10.1210/jcem.85.11.6984 | ||
| 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 | **Height of 3 [[Standard deviation|standard deviations]] or more below the [[mean]] | ||
**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 | **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 [[Growth hormone-releasing hormone|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 | ||
| Line 34: | Line 35: | ||
}}</ref> | }}</ref> | ||
* A recent study recommended testing for GH1 and [[ | * A recent study recommended testing for GH1 and [[GHRH]] 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]] | ||
| Line 46: | Line 47: | ||
| pmid = 21396571 | | pmid = 21396571 | ||
}}</ref> | }}</ref> | ||
* 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 | * The patient with the [[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]] | ||
| Line 57: | Line 58: | ||
| 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|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]] | ||
| Line 69: | Line 71: | ||
| pmid = 21267005 | | pmid = 21267005 | ||
}}</ref> | }}</ref> | ||
* 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 | * 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]] | ||
| Line 82: | Line 84: | ||
}}</ref> | }}</ref> | ||
* Understanding of | * Understanding the genetic basis of GHD opens the possibility for a more advanced approach to the diagnosis and management of GHD.<ref>{{Cite journal | ||
| author = [[Takara Stanley]] | | author = [[Takara Stanley]] | ||
Latest revision as of 16:46, 25 October 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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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: 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.