Myotonic dystrophy presenting as male infertility: a case report.
A 28-year-old man presented with azoospermia, low plasma testosterone levels, and an elevated follicle stimulating hormone (FSH) concentration. Bilateral testicular biopsies revealed tubular atrophy with normal-appearing Leydig cells. One year later, symptoms and signs consistent with myotonic dystrophy (MyD) were noted. The rarity of male hypogonadism preceding the neurological manifestations of MyD is stressed.
D000328:Adult; D001706:Biopsy; D006728:Hormones / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000150:complications*; D007248:Infertility, Male / Q000209:etiology*; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications* / Q000473:pathology; D012661:Semen / Q000032:analysis; D013737:Testis / Q000473:pathology
D006728:Hormones