Genetic evaluation of short stature

Andrew Dauber, Ronald (Ron) Rosenfeld, Joel N. Hirschhorn

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

Context: Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature. Copyright

Evidence Acquisition: A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed.

Evidence Synthesis: There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups.

Conclusion: Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature.

Original languageEnglish (US)
Pages (from-to)3080-3092
Number of pages13
JournalJournal of Clinical Endocrinology and Metabolism
Volume99
Issue number9
DOIs
StatePublished - Sep 1 2014

Fingerprint

Genetic Testing
Testing
PubMed
Guidelines
Technology
Growth
Endocrinologists
Genetics

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)

Cite this

Dauber, A., Rosenfeld, R. R., & Hirschhorn, J. N. (2014). Genetic evaluation of short stature. Journal of Clinical Endocrinology and Metabolism, 99(9), 3080-3092. https://doi.org/10.1210/jc.2014-1506

Genetic evaluation of short stature. / Dauber, Andrew; Rosenfeld, Ronald (Ron); Hirschhorn, Joel N.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 99, No. 9, 01.09.2014, p. 3080-3092.

Research output: Contribution to journalArticle

Dauber, A, Rosenfeld, RR & Hirschhorn, JN 2014, 'Genetic evaluation of short stature', Journal of Clinical Endocrinology and Metabolism, vol. 99, no. 9, pp. 3080-3092. https://doi.org/10.1210/jc.2014-1506
Dauber, Andrew ; Rosenfeld, Ronald (Ron) ; Hirschhorn, Joel N. / Genetic evaluation of short stature. In: Journal of Clinical Endocrinology and Metabolism. 2014 ; Vol. 99, No. 9. pp. 3080-3092.
@article{68b5626b58ce4399b26cb0282380cffc,
title = "Genetic evaluation of short stature",
abstract = "Context: Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature. CopyrightEvidence Acquisition: A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed.Evidence Synthesis: There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups.Conclusion: Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature.",
author = "Andrew Dauber and Rosenfeld, {Ronald (Ron)} and Hirschhorn, {Joel N.}",
year = "2014",
month = "9",
day = "1",
doi = "10.1210/jc.2014-1506",
language = "English (US)",
volume = "99",
pages = "3080--3092",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "9",

}

TY - JOUR

T1 - Genetic evaluation of short stature

AU - Dauber, Andrew

AU - Rosenfeld, Ronald (Ron)

AU - Hirschhorn, Joel N.

PY - 2014/9/1

Y1 - 2014/9/1

N2 - Context: Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature. CopyrightEvidence Acquisition: A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed.Evidence Synthesis: There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups.Conclusion: Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature.

AB - Context: Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature. CopyrightEvidence Acquisition: A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed.Evidence Synthesis: There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups.Conclusion: Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature.

UR - http://www.scopus.com/inward/record.url?scp=84907190302&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84907190302&partnerID=8YFLogxK

U2 - 10.1210/jc.2014-1506

DO - 10.1210/jc.2014-1506

M3 - Article

C2 - 24915122

AN - SCOPUS:84907190302

VL - 99

SP - 3080

EP - 3092

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 9

ER -