Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.
D015065:17-Hydroxycorticosteroids / Q000652:urine; D015068:17-Ketosteroids / Q000652:urine; D000293:Adolescent; D000311:Adrenal Glands / Q000378:metabolism; D000328:Adult; D001766:Blindness / Q000235:genetics*; D001827:Body Height; D002648:Child; D006063:Chorionic Gonadotropin; D003638:Deafness / Q000235:genetics*; D005640:Follicle Stimulating Hormone / Q000652:urine; D006128:Growth; D006801:Humans; D007006:Hypogonadism / Q000145:classification / Q000235:genetics*; D007621:Karyotyping; D007985:Leydig Cells; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D010375:Pedigree; D012727:Sex Characteristics; D013737:Testis / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D013739:Testosterone / Q000096:biosynthesis / Q000097:blood; D014280:Triglycerides / Q000097:blood; D014527:Uric Acid / Q000097:blood
D015065:17-Hydroxycorticosteroids; D015068:17-Ketosteroids; D006063:Chorionic Gonadotropin; D008074:Lipoproteins; D014280:Triglycerides; D014527:Uric Acid; D013739:Testosterone; D005640:Follicle Stimulating Hormone