Hypergonadotropic hypogonadism in newborn males with primary testicular failure.
Four infants with genital ambiguity but with apparent testes were given a gonadotropin-releasing hormone (GnRH) test and a human chorionic gonadotropin (hCG) test at age 3-12 days. The results were compared with those from 16 newborn males (aged 2 to 6 days) with minor genital anomalies; 9 with unilateral and 3 with bilateral incomplete testicular descent, 2 with surgically insignificant glandular hypospadias and 2 with penis length less than (means-2 SD) for gestational age. Treatment with testosterone resulted in clear phallus growth in all four patients. All four patients had elevated basal luteinizing hormone (LH) concentrations as well as an exaggerated LH response to GnRH; three of them also had an exaggerated follicle stimulating hormone (FSH) response. Thus in all patients the etiology of genital ambiguity was considered to be testicular. The testosterone response to hCG was normal in two of the patients but impaired in the other two. The steroidogenic response did not show any specific enzyme defect. We conclude that newborn boys with Leydig cell failure are clearly hypergonadotropic, the GnRH test is a more sensitive indicator of Leydig cell failure neonatally than the hCG test and normal testes greatly inhibit the secretion of both LH and FSH during the first week of life.
D006063:Chorionic Gonadotropin / Q000494:pharmacology; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology*; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D007231:Infant, Newborn; D007986:Luteinizing Hormone / Q000378:metabolism; D008297:Male; D010906:Pituitary Hormone-Releasing Hormones / Q000494:pharmacology; D013737:Testis / Q000503:physiopathology*; D013739:Testosterone / Q000627:therapeutic use
D006063:Chorionic Gonadotropin; D010906:Pituitary Hormone-Releasing Hormones; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone