Polycystic ovarian disease, maturation arrest of spermiogenesis, and Klinefelter's syndrome in siblings of a family with familial hirsutism.
A family with hirsutism in five generations in which polycystic or bilaterally enlarged ovaries were documented in three different sibships of two generations is described. Two brothers of one of the women with polycystic ovaries had a low or low-normal plasma follicle-stimulating hormone level and one of these had oligospermia due to maturation arrest of spermiogenesis. A third brother had Klinefelter's syndrome. Other abnormal features in the family included precocious adrenarche, beardless males, eunuchoidism, and prepubertal grand mal seizures.
D000293:Adolescent; D000328:Adult; D005260:Female; D006628:Hirsutism / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D011085:Polycystic Ovary Syndrome / Q000150:complications / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics*