Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis.
We studied four patients with Robinow's syndrome. New findings included the following: (1) normal pubertal virilization with persistence of micropenis; (2) elevated basal serum follicle-stimulating hormone levels and a hyperresponse of serum  luteinizing  hormone to gonadorelin hydrochloride (Factrel) stimulation among postpubertal male patients, suggesting  partial primary hypogonadism; (3) normal 5 alpha-reductase and androgen receptor activity in genital skin fibroblasts; and (4) normal to borderline adult height.
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000032:analysis; D000293:Adolescent; D000328:Adult; D002648:Child; D003456:Cryptorchidism / Q000209:etiology; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D007021:Hypospadias / Q000209:etiology; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010413:Penis / Q000473:pathology*; D011627:Puberty; D011944:Receptors, Androgen / Q000032:analysis; D013577:Syndrome; D013739:Testosterone / Q000097:blood
D011944:Receptors, Androgen; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase