Growth hormone deficiency screening: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
Line 6: Line 6:
==Screening==
==Screening==


=== ''Genetic screening indications:'' ===
=== ''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
| journal = [[The Journal of clinical endocrinology and metabolism]]
| volume = 85
| issue = 11
| pages = 3990–3993
| year = 2000
| month = November
| doi = 10.1210/jcem.85.11.6984
| pmid = 11095419
}}</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
| 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
| journal = [[The Journal of clinical endocrinology and metabolism]]
| volume = 96
| issue = 9
| pages = E1457–E1460
| year = 2011
| month = September
| doi = 10.1210/jc.2011-0170
| pmid = 21715545
}}</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
| author = [[J. M. Wit]], [[W. Kiess]] & [[P. Mullis]]
| title = Genetic evaluation of short stature
| journal = [[Best practice & research. Clinical endocrinology & metabolism]]
| volume = 25
| issue = 1
| pages = 1–17
| year = 2011
| month = February
| doi = 10.1016/j.beem.2010.06.007
| pmid = 21396571
}}</ref>
* 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.<ref>{{Cite journal
| author = [[Darya Gorbenko del Blanco]], [[Laura C. G. de Graaff]], [[Dirk Posthouwer]], [[Theo J. Visser]] & [[Anita C. S. Hokken-Koelega]]
| title = Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes
| journal = [[European journal of endocrinology]]
| volume = 165
| issue = 4
| pages = 537–544
| year = 2011
| month = October
| doi = 10.1530/EJE-11-0478
| 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
| 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]]
| title = The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
| journal = [[European journal of human genetics : EJHG]]
| volume = 19
| issue = 5
| pages = 534–539
| year = 2011
| month = May
| doi = 10.1038/ejhg.2010.215
| pmid = 21267005
}}</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
| author = [[J. A. 3rd Phillips]] & [[J. D. Cogan]]
| title = Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency
| journal = [[The Journal of clinical endocrinology and metabolism]]
| volume = 78
| issue = 1
| pages = 11–16
| year = 1994
| month = January
| doi = 10.1210/jcem.78.1.8288694
| pmid = 8288694
}}</ref>
* Understanding of genetic contributions to GHD opens the possibility for a more rational approach to the diagnosis and management of GHD.<ref>{{Cite journal
| author = [[Takara Stanley]]
| title = Diagnosis of growth hormone deficiency in childhood
| journal = [[Current opinion in endocrinology, diabetes, and obesity]]
| volume = 19
| issue = 1
| pages = 47–52
| year = 2012
| month = February
| doi = 10.1097/MED.0b013e32834ec952
| pmid = 22157400
}}</ref>


==References==
==References==

Revision as of 19:06, 18 August 2017

Growth hormone deficiency Microchapters

Home

Patient Information

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

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Growth hormone deficiency screening On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Growth hormone deficiency screening

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Growth hormone deficiency screening

CDC on Growth hormone deficiency screening

Growth hormone deficiency screening in the news

Blogs on Growth hormone deficiency screening

Directions to Hospitals Treating Growth hormone deficiency

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
  • 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. Unknown parameter |month= ignored (help)
  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. Unknown parameter |month= ignored (help)
  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. Unknown parameter |month= ignored (help)
  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. Unknown parameter |month= ignored (help)
  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. Unknown parameter |month= ignored (help)
  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. Unknown parameter |month= ignored (help)
  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. Unknown parameter |month= ignored (help)

Template:WH Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Growth_hormone_deficiency_screening&oldid=1343479"