“Growth hormone deficiency”, even when non-severe, does not exclude a genetic cause of short stature
Abstract
Dear Editor, We read with great interest the international guideline on genetic testing of children with short stature by Dauber et al.,1 which provides a timely and much-needed framework for integrating genetic investigations into the diagnostic work-up of growth disorders.1 However, we do not fully agree with the implication that genetic testing is not indicated in children with a secondary cause of short stature, such as growth hormone deficiency (GHD), or that it should be recommended only in children with severe GHD—a term that is not explicitly defined in the text and has been variably defined as a peak GH level on provocative testing of either
Fields of Study & Subjects
Growth Hormone and Insulin-like Growth Factors
Folate and B Vitamins Research
Pituitary Gland Disorders and Treatments
Publication details
- Journal / source
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Volume
- 194
- Issue
- 3
- Pages
- L31–L32
- Publication date
- 7 February 2026
- Language
- EN