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    Although genetic factors play a pivotal role in male pubertal timing, genome-wide association studies have identified only a few loci. Genetic variation of follicle-stimulating hormone (FSH) action affects adult reproductive parameters and female pubertal timing. To investigate whether genetic variation affecting FSH action is associated with onset of puberty in boys. Cross-sectional and longitudinal study of two cohorts of healthy boys. This was a population-based study. Danish (n = 1130) and Chilean (n = 424) boys were followed through puberty and genotyped for FSHB c.-211G>T, FSHR c.-29A>G, and FSHR c.2039G>A. Clinical pubertal staging including orchidometry, anthropometry, and serum gonadotropin levels. Although the cohorts differed markedly (e.g., body composition and genotype frequencies), genetic variation affecting FSH production (FSHB c.-211G>T) was associated with age at pubertal onset, as assessed by testicular enlargement, in both cohorts. The effect appeared further modified by coexistence of genetic variation affecting FSH sensitivity (FSHR c.-29G>A): After correcting for body mass index (BMI), boys with a ligand-receptor variant combination resulting in weak FSH action (i.e., FSHB c.-211GT/TT and FSHR c.-29AA) entered puberty 0.64 years [95% confidence interval (CI), 0.12 to 1.17 years; Denmark] and 0.94 years (95% CI, 0.00 to 1.88 years; Chile) later than boys with the most effective FSH action. Effects explained 1.7% (Denmark) and 1.5% (Chile) of the variance. In addition, BMI z score was negatively associated with pubertal timing (β = -0.35 years in both cohorts), explaining 17.2% (Denmark) and 7.2% (Chile) of the variance. In two ethnically distinct populations, we independently identified an association of two genetic loci with male pubertal timing.


    Alexander S Busch, Casper P Hagen, Katharina M Main, Anita Pereira, Camila Corvalan, Kristian Almstrup, Veronica Mericq, Anders Juul. Genetic Variation of Follicle-Stimulating Hormone Action Is Associated With Age at Testicular Growth in Boys. The Journal of clinical endocrinology and metabolism. 2017 May 01;102(5):1740-1749

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    PMID: 28323923

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