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Region Hovedstaden - en del af Københavns Universitetshospital
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Genetic Variation of Follicle-Stimulating Hormone Action Is Associated With Age at Testicular Growth in Boys

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DOI

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  5. Obesity is associated with earlier pubertal onset in boys

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Evaluation of Serum Insulin-like Factor 3 Quantification by LC-MS/MS as a Biomarker of Leydig Cell Function

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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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.

OriginalsprogEngelsk
TidsskriftThe Journal of clinical endocrinology and metabolism
Vol/bind102
Udgave nummer5
Sider (fra-til)1740-1749
Antal sider10
ISSN0021-972X
DOI
StatusUdgivet - 1 maj 2017

ID: 51496590