Clinical and molecular genetic analysis of children with severe short stature due to isolated growth hormone deficiency: insights from a South Indian cohort and predictors of growth response
Authors' conclusion
The South Indian IGHD cohort exhibits a distinct genetic profile, with GHRHR p.Glu72Ter being the most frequent variant, consistent with a founder effect. Severe short stature, low peak stimulated growth hormone levels, and superior first-year growth response indirectly predicted mutation positivity.
Study context
- Population
- Children with isolated growth hormone deficiency (IGHD) on ≥1 year of recombinant human growth hormone (rhGH) therapy, South Indian cohort
- Participants
- 63 children
- Outcome
- Clinical, biochemical and molecular characteristics of IGHD
Methodological detailsAuxology, GH provocative testing, pituitary MRI and whole-exome sequencing
- Auxology, GH provocative testing, pituitary MRI and whole-exome sequencing
Main finding
As reported in the abstract
- Age at presentation (mean ± SD), years
- 8.9 ± 2.9
- Born to consanguineous parents
- 57%
- Height SDS (mean ± SD)
- - 4.29 ± 1.09
- Genetic height deficit (mean ± SD), SDS
- - 2.42 ± 1.12
- Genetic variants identified
- 49%
- GHRHR variants (p.Glu72Ter most frequent)
- 39.7%
- GH1 variants
- 4.8%
Observational data: associations, not effects.
Further findings
Genetic variant-positive vs variant-negative children
- Variant-positive children presented younger, with more severe growth failure and a better response to rhGH
Predictor of first-year growth response (regression) · first year of rhGH
- Genetic variant-positive status was an independent predictor of favourable first-year growth response; ΔHeight-SDS
- 1.24 ± 0.50
Original publication
Clinical and molecular genetic analysis of children with severe short stature due to isolated growth hormone deficiency: insights from a South Indian cohort and predictors of growth response. Pituitary. Published 22 December 2025. doi:10.
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