X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings.
Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism.
D015065:17-Hydroxycorticosteroids / Q000652:urine; D015068:17-Ketosteroids / Q000652:urine; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics* / Q000378:metabolism; D005640:Follicle Stimulating Hormone / Q000097:blood; D006130:Growth Disorders / Q000235:genetics / Q000378:metabolism; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000378:metabolism; D007057:Ichthyosis / Q000235:genetics* / Q000378:metabolism; D007328:Insulin / Q000097:blood; D008607:Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D013972:Thyrotropin / Q000097:blood
D015065:17-Hydroxycorticosteroids; D015068:17-Ketosteroids; D007328:Insulin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin; D013006:Growth Hormone