Male Hypogonadism with Gynecomastia Caused by Late-Onset Deficiency of Testicular 17-Ketosteroid Reductase

• Published in: The New England journal of medicine Vol. 328; no. 18; pp. 1297 - 1301
• Main Authors: Castro-Magana, Mariano, Angulo, Moris, Uy, John
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 06.05.1993
• Subjects: 17-Hydroxysteroid Dehydrogenases - deficiency; Adolescent; Adult; Androgens; Androstenedione; Biological and medical sciences; Chorionic gonadotropin; Defects; Dehydrogenases; Dexamethasone; Endocrinology; Enzymes; Estrogens; Estrone; Follicle-stimulating hormone; Gonadal Steroid Hormones - blood; Gonadotropins; Gonadotropins, Pituitary - blood; Gynecology. Andrology. Obstetrics; Gynecomastia; Gynecomastia - blood; Gynecomastia - enzymology; Humans; Hypogonadism; Hypogonadism - blood; Hypogonadism - enzymology; Laboratories; Luteinizing hormone; Male; Male genital diseases; Medical research; Medical sciences; Men; Mens health; Non tumoral diseases; Pediatrics; Pituitary (anterior); Pseudohermaphroditism; Puberty; Reductase; Steroid hormones; Testes; Testosterone; Human; Postpuberty; Deficiency; Sex; Male; Diagnosis; Gynecomasty; Male genital diseases; Hypogonadism; Genital diseases
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199305063281802

The clinical manifestations of hypogonadism in men depend on the timing of the testicular failure. If it occurs in the first several months of fetal life, the external genitalia do not develop normally, resulting in male pseudohermaphroditism. If it occurs later during gestation, the infant will be born with a small penis and undescended testes. Postnatal testicular failure results in abnormal pubertal development, gynecomastia, and infertility 1 . The final step in the synthesis of sex hormones in the gonads is the conversion of androstenedione to testosterone and of estrone to estradiol, reactions that are catalyzed by 17-ketosteroid reductase. Deficiency of . . .