Genetic evaluation of short stature

J Clin Endocrinol Metab. 2014 Sep;99(9):3080-92. doi: 10.1210/jc.2014-1506. Epub 2014 Jun 10.


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.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Algorithms
  • Body Height / genetics*
  • Endocrinology / standards
  • Genetic Testing*
  • Genomics*
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Humans
  • Practice Guidelines as Topic*