Genetic evaluation of short stature

Andrew Dauber, Ron G. Rosenfeld, Joel N. Hirschhorn

Research output: Contribution to journalReview article

65 Scopus citations

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

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

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    Dauber, A., Rosenfeld, R. G., & 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