Clinical features and growth harmone response in 25 children with duplications in the SHOX region
Authors' conclusion
The majority of children had features associated with SHOX haploinsufficiency, with an increased SH/H ratio most frequently described. Furthermore, rhGH treatment leads to a significant growth response in prepubertal children with a duplication of the SHOX region.
Study context
- Population
- Children with a likely pathogenic duplication of the SHOX region and >1 year of recombinant human growth hormone (rhGH) treatment (15 boys, 10 girls), Dutch National Registry of GH treatment in children23 different duplications
- Participants
- 25 children
- Exposure
- rhGH response in prepubertal vs pubertal children with SHOX-region duplications
- Prepubertaln = 19
- Outcome
- Height gain after 1 year of rhGH
- Follow-up
- 1 year
Methodological detailsDutch National Registry of GH treatment in children
- Dutch National Registry of GH treatment in children
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
Height at baseline
- Median height (IQR −3.0 to −2.1)
- −2.5 SDS
Features of SHOX haploinsufficiency
- Children with features of SHOX haploinsufficiency, most often increased SH/H ratio
- 76%
- No height differences between duplication types
Adult height
- Adult height (AH) reached in 7 children, median (−2.1 to −0.3)
- −1.1 SDS
- AH reached in 3 children, median (−3.6 to −2.7)
- −2.9 SDS
Original publication
Clinical features and growth harmone response in 25 children with duplications in the SHOX region. Eur J Endocrinol. Published 21 April 2026. doi:10.
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