Genetics of GH Deficiency: Insights From a Cohort of 203 Patients
Authors' conclusion
This study revealed several novel and recurrent mutations that expand the genetic spectrum of GH deficiency and underscore the genetic heterogeneity of this disorder. A significant proportion of patients remained genetically undiagnosed, suggesting the involvement of additional unknown genetic, epigenetic, or environmental factors. These findings contribute to the understanding of the genetic architecture of GH deficiency and highlight the need for further investigations to elucidate underlying mechanisms and identify additional causative factors.
Study context
- Population
- Portuguese patients with GH deficiency
- Participants
- 203 patients
- Exposure
- Isolated GH deficiency vs combined pituitary hormone deficiency
- Isolated GH deficiencyn = 78
- Combined pituitary hormone deficiencyn = 125
- Outcome
- Rare sequence variants (population maximum allele frequency <0.01) on a panel of 184 GHD-related genes
Methodological detailsgenetic screening (Sanger sequencing and whole exome sequencing)
- Genetic screening (Sanger sequencing and whole exome sequencing)
Main finding
As reported in the abstract
Genetic cause identified
- Genetic cause identified, all patients
- 23.2%
- PROP1 mutations
- 14.8%
- GLI2 mutations
- 2.0%
- KMT2D mutations
- 1.0%
- PROK2 mutations
- 1.0%
- PROKR2 mutations
- 1.0%
- CDON mutations
- 0.5%
- COL1A2 mutations
- 0.5%
- COL2A1 mutations
- 0.5%
- GHRHR mutations
- 0.5%
- PTPN11 mutations
- 0.5%
- SOX3 mutations
- 0.5%
- Digenic BMP4 and NF1 mutation (1 patient)
- 0.5%
Observational data: associations, not effects.
Further findings
- Patients with variants of uncertain significance
- 87.8%
Original publication
Genetics of GH Deficiency: Insights From a Cohort of 203 Patients. J Clin Endocrinol Metab. Published 24 June 2025. doi:10.
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