Pediatric endocrinology

International guideline on genetic testing of children with short stature

Eur J EndocrinolPublished Guideline

Recommendations

As issued by the authors

  1. General overview of the approach to the evaluation of a child with short stature

  2. Factors in medical and family history, physical examination, radiographic and laboratory work-up that increase the likelihood of identifying a genetic etiology

  3. Algorithm for genetic work-up of individuals with short stature based on clinical presentation

  4. Benefits and risks of genetic testing are discussed

Original publication

International guideline on genetic testing of children with short stature. Eur J Endocrinol. Published 16 January 2026. doi:10.1093/ejendo/lvag013

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