Growth hormone deficiency screening: Difference between revisions

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  | pages = 3990–3993
  | pages = 3990–3993
  | year = 2000
  | year = 2000
| month = November
  | 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 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 GHRH, and very low IGF-I and IGF-binding protein-3 (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 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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  | pages = E1457–E1460
  | pages = E1457–E1460
  | year = 2011
  | year = 2011
| month = September
  | doi = 10.1210/jc.2011-0170
  | doi = 10.1210/jc.2011-0170
  | pmid = 21715545
  | pmid = 21715545
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  | pages = 1–17
  | pages = 1–17
  | year = 2011
  | year = 2011
| month = February
  | doi = 10.1016/j.beem.2010.06.007
  | doi = 10.1016/j.beem.2010.06.007
  | pmid = 21396571
  | pmid = 21396571
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  | pages = 537–544
  | pages = 537–544
  | year = 2011
  | year = 2011
| month = October
  | doi = 10.1530/EJE-11-0478
  | doi = 10.1530/EJE-11-0478
  | pmid = 21803798
  | pmid = 21803798
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  | pages = 534–539
  | pages = 534–539
  | year = 2011
  | year = 2011
| month = May
  | doi = 10.1038/ejhg.2010.215
  | doi = 10.1038/ejhg.2010.215
  | pmid = 21267005
  | pmid = 21267005
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  | pages = 11–16
  | pages = 11–16
  | year = 1994
  | year = 1994
| month = January
  | doi = 10.1210/jcem.78.1.8288694
  | doi = 10.1210/jcem.78.1.8288694
  | pmid = 8288694
  | pmid = 8288694
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  | pages = 47–52
  | pages = 47–52
  | year = 2012
  | year = 2012
| month = February
  | doi = 10.1097/MED.0b013e32834ec952
  | doi = 10.1097/MED.0b013e32834ec952
  | pmid = 22157400
  | pmid = 22157400

Revision as of 19:08, 18 August 2017

Growth hormone deficiency Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Growth hormone deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

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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
  • GHD patients have been screened for mutations in the GH1 and GHRH gene.[2]
  • 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 provocative GH 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

  1. ↑ "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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.

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