Reproductive endocrinology

Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome

J Clin Endocrinol MetabPublished Genetic association study

Authors' conclusion

Genetic risk factors for PCOS are associated with alterations in metabolic, growth, and developmental traits in childhood. Thus, PCOS may not simply be a condition that affects women of reproductive age but, rather, a possible manifestation of an underlying condition that affects both sexes starting in early life.

Study context

Population
Girls and boys in 4 pediatric cohorts: ALSPAC (UK), COPSAC (Denmark), Project Viva (USA), The HOLBÆK Study (Denmark)
Participants
12,350 participants4 pediatric cohorts
Comparison
Higher vs lower polycystic ovary syndrome (PCOS) polygenic risk score
Outcome
Associations of PCOS PRS with childhood phenotypes
Methodological detailsmeta-analysis of 4 pediatric cohorts, polygenic risk score, fixed-effect meta-analysis, multicohort
  • Meta-analysis of 4 pediatric cohorts
  • Polygenic risk score
  • Fixed-effect meta-analysis
  • Multicohort

Pooled result

As reported in the abstract

BMI in midchildhood, increase per 1 SD of polygenic risk score (PRS): 95% CI 0.03, 0.07; P = 3 × 10-5
0.05 kg/m²
Obesity in early childhood, OR
1.34 (95% CI 1.13, 1.59; P = .0009)
Higher BMI and obesity risk persisted through late adolescence
P all ≤.03
Age at pubarche, decrease per 1 SD of PRS: 95% CI −1.44, −0.26; P = .005
0.85-month
Age at peak height velocity, decrease per 1 SD of PRS: 95% CI −0.94, −0.33; P = 4 × 10-5
0.64-month

Original publication

Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome. J Clin Endocrinol Metab. Published 10 September 2023. doi:10.1210/clinem/dgad533

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