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Genetic Variation of Follicle-Stimulating Hormone Action Is Associated With Age at Testicular Growth in Boys

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Context: 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.

Objective: To investigate whether genetic variation affecting FSH action is associated with onset of puberty in boys.

Design: Cross-sectional and longitudinal study of two cohorts of healthy boys.

Setting: This was a population-based study.

Patients or Other Participants: 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.

Main Outcome Measures: Clinical pubertal staging including orchidometry, anthropometry, and serum gonadotropin levels.

Results: 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.

Conclusion: In two ethnically distinct populations, we independently identified an association of two genetic loci with male pubertal timing.

Original languageEnglish
JournalThe Journal of clinical endocrinology and metabolism
Volume102
Issue number5
Pages (from-to)1740-1749
Number of pages10
ISSN0021-972X
DOIs
Publication statusPublished - 1 May 2017

    Research areas

  • Journal Article

ID: 51496590