Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism
Authors' conclusion
Common genetic variants that influence pubertal timing in the general population contribute strongly to the genetics of CDP, weakly to normosmic IHH, and potentially not at all to KS. These findings demonstrate that the common-variant genetics of CDP and normosmic IHH are largely but not entirely distinct.
Study context
- Population
- Individuals with constitutional delay of puberty (CDP), normosmic idiopathic hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS); controls from unrelated studies
- Comparison
- CDP, normosmic IHH and KS cohorts vs controls
- CDPn = 80
- Normosmic IHHn = 301
- KSn = 348
- Outcome
- PGS based on genome-wide association studies for timing of male pubertal hallmarks and age at menarche (AAM)
Main finding
As reported in the abstract
PGS for male pubertal hallmarks and AAM vs controls
- CDP · higher polygenic scores (PGS) with CDP
- Cohen's d (male hallmarks PGS) 0.67; P = 1 × 10-10
- CDP · higher PGS with CDP
- Cohen's d (age at menarche (AAM) PGS) 0.85; P = 1 × 10-16
- Normosmic IHH · higher PGS with normosmic IHH
- Cohen's d (male hallmarks PGS) 0.20; P = 0.003
- Normosmic IHH
- Cohen's d (AAM PGS) 0.10; P = 0.055
- KS · no difference
- Cohen's d (male hallmarks PGS) 0.05; P = 0.45
- KS · no difference
- Cohen's d (AAM PGS) 0.03; P = 0.56
Observational data: associations, not effects.
Original publication
Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. Published 13 March 2024. doi:10.
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