Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I
An erratum to this article was published (J Clin Endocrinol Metab, 22 Apr 2025 ↗)
Authors' conclusion
This study combines phenotypical and functional data in a uniquely large group of children with short stature carrying GHSR variants, and shows their good response to GH treatment. The results strengthen the hypothesis of GHSR's role in GH secretion.
Study context
- Population
- Children with short stature and heterozygous GHSR variants, aged 4.0–15.1 years
- Participants
- 26 children
- Outcome
- Phenotype of GHSR haploinsufficiency
Methodological detailsin vitro functional studies
- In vitro functional studies
Main finding
As reported in the abstract
Different variants identified (6 novel)
10
Height, proportionate short stature (mean ± SD, SDS)
−2.8 ± 0.5
Failure to thrive with low appetite (n)
4
Mean serum IGF-1 (SDS)
−1.6 ± 0.7
Observational data: associations, not effects.
Further findings
Height gain on growth hormone (GH) treatment (9 treated) · 1 year
- Height gain (SDS)
- 0.9 ± 0.4
Height gain on GH treatment · 2 years
- Height gain (SDS), n = 5
- 1.5 ± 0.4
Original publication
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