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A genetic approach to evaluation of short stature of undetermined cause

Philip G Murray1, Peter E Clayton1, Steven D Chernausek2

  • 1Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK; Division of Developmental Biology and Medicine, School of Medical Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester, UK.

The Lancet. Diabetes & Endocrinology
|February 5, 2018
PubMed

Insights

Genetic testing can provide molecular diagnoses for 25-40% of children with idiopathic short stature. This diagnosis is crucial for guiding treatment decisions, such as growth hormone or insulin-like growth factor 1 therapy.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Molecular Diagnostics

Background:

  • Short stature is a frequent reason for pediatric endocrinology consultations.
  • Idiopathic short stature (ISS) is diagnosed after excluding other medical conditions.
  • Genetic factors significantly influence human height.

Purpose of the Study:

  • To review the utility of advanced genetic studies in diagnosing ISS.
  • To estimate the diagnostic yield of molecular genetic testing in ISS.
  • To highlight the importance of molecular diagnoses for treatment decisions.

Main Methods:

  • Review of genetic studies including copy number variant analysis.
  • Application of targeted gene panels.
  • Utilization of whole-exome sequencing in pediatric ISS cases.

Main Results:

  • Genetic technologies can identify a molecular diagnosis in an estimated 25-40% of children with ISS.
  • These advanced genetic approaches are increasingly applicable to ISS diagnosis.

Conclusions:

  • Molecular genetic testing offers significant diagnostic potential for children with idiopathic short stature.
  • A confirmed molecular diagnosis can inform personalized treatment strategies, including growth hormone and IGF-1 therapies.

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