The Laurence-Moon-Bardet-Biedl syndrome: unresponsiveness to the action of testosterone, a possible mechanism.
The pathogenesis of hypogonadism and hypogenitalism was investigated in a male patient with the complete form of the Laurence-Moon-Bardet-Biedl syndrome. Synthetic gonadotropin-releasing hormone induced an increase in serum luteinizing hormone levels from 16.5 mIU/ml to 19.3 mIU/ml and in follicle-stimulating hormone levels from 18.5 mIU/ml to 25.9 mIU/ml. Serum testosterone levels were normal and did not rise after stimulation with human chorionic gonadotropin. The administration of thyrotropin-releasing hormone resulted in an increase in serum thyrotropin levels from 9.0 microU/ml to 12.0 microU/ml. Serum testoterone/estradiol-binding globulin, adrenocorticotropic hormone, and T3 resin uptake were normal. Serum cortisol showed a normal diurnal variation. The sex chromatin test was negative and the karyotupe revealed a 46,XY chromosome pattern. On biopsy, the left testis lacked germinal cells and the right testis showed spermatogenic arrest. Signs of hypogonadism and hypogenitalism persisted after 11 months of testosterone treatment. In this patient the target-organ unresponsiveness resulted in hypogenitalism and hypogonadism.
D000293:Adolescent; D001706:Biopsy; D005654:Fundus Oculi; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007006:Hypogonadism / Q000209:etiology; D007849:Laurence-Moon Syndrome / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D008297:Male; D010375:Pedigree; D013737:Testis / Q000473:pathology; D013739:Testosterone / Q000627:therapeutic use*
D013739:Testosterone