Context: An important proportion of male members of PCOS families exhibit insulin resistance and related metabolic defects. However, the reproductive phenotypes in first- degree male relatives of PCOS women have been less described.

Objective: To evaluate the pituitary-testicular function in sons of women with PCOS during different stages of life: early infancy, childhood and adulthood.

Design: Eighty sons of women with PCOS (PCOS_S) and 56 sons of control women without hyperandrogenism (C_S), matched for age, were studied. In all subjects, the pituitary-gonadal axis was evaluated by a GnRH agonist test (leuprolide acetate, 10 ug/Kg s.c.). Serum anti-Müllerian hormone (AMH) and inhibin B were used as Sertoli cell markers. Serum concentrations of gonadotropins, steroid hormones, sex hormone binding globulin (SHBG) were also determined. In a semen analysis was performed.

Results: Basal concentrations of gonadotropins, sex steroids and inhibin B were comparable between PCOS_s and C_S during early infancy, childhood and adulthood. Similar results in stimulated gonadotropin and sex steroid concentrations were observed. However, AMH serum concentrations were higher in PCOS_s compared to C_S during early infancy [925.0 (457.3 - 1401.7) pmol/l vs 685.6 (417.9 - 1313.2) pmol/l, p=0.039] and during childhood [616.3 (304.6 - 1136.9) pmol/l vs 416.5 (206.7 - 801.2) pmol/l, p=0.007). Sperm-count analysis was similar between both groups.

Conclusions: AMH concentrations are increased in prepubertal sons of women with PCOS, suggesting that these boys may show an increased Sertoli cell number or function during infancy and childhood. However, this does not seem to have a major deleterious effect on sperm production.