title: Investigation of peripheral androgen resistance in genital hypoplasia associated with congenital growth hormone deficiency.
abstract: In a male infant with congenital growth hormone deficiency and genital hypoplasia (micropenis, cryptorchidism and small scrotum) androgen receptors, tissue specific 5 alpha reductase and steroid excretion pattern were determined in order to test the hypothesis of peripheral androgen resistance. A reduced number of cytosolic binding sites (Nmax) was found for the T and DHT receptor in patients foreskin compared to controls (n = 9) of similar age. The specific affinity (Kd) of the cytosolic receptor, however, was normal. Tissue specific 5 alpha reductase determination revealed a Vmax of 3.3 pmol/mg/h (controls 15.8 +/- 1.4). Analysis of urinary steroid excretion pattern revealed decreased levels of T metabolites, indicating impaired T metabolism. We postulate, that genital hypoplasia in patients with congenital GH deficiency is associated with impaired target organ responsiveness to androgen hormones caused by abnormalities within the pathway of intracellular reactions of T utilization.
mesh_terms: D000728:Androgens / Q000502:physiology*; D042944:Cholestenone 5 alpha-Reductase; D003456:Cryptorchidism / Q000150:complications; D003600:Cytosol / Q000032:analysis; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D007223:Infant; D008297:Male; D010088:Oxidoreductases / Q000032:analysis; D010413:Penis / Q000002:abnormalities* / Q000032:analysis / Q000201:enzymology; D011944:Receptors, Androgen / Q000032:analysis; D012611:Scrotum / Q000002:abnormalities; D013256:Steroids / Q000652:urine; D013739:Testosterone / Q000031:analogs & derivatives / Q000032:analysis / Q000378:metabolism
chemical_list: D000728:Androgens; D011944:Receptors, Androgen; D013256:Steroids; D013739:Testosterone; C013915:boldenone; D013006:Growth Hormone; D010088:Oxidoreductases; D042944:Cholestenone 5 alpha-Reductase