Adrenogenital syndrome due to 11-beta-hydroxylase deficiency with skeletal abnormalities and pulmonary stenosis.
This report describes a 13-year-old female patient with 11-beta-hydroxylase deficiency who was found to have short fourth metatarsals and pulmonary stenosis. The unusual association between these abnormalities and this rare form of congenital adrenal hyperplasia is presented.
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis / Q000201:enzymology*; D003348:Cortisone / Q000031:analogs & derivatives / Q000627:therapeutic use; D003907:Dexamethasone; D005260:Female; D006801:Humans; D008684:Metatarsus / Q000002:abnormalities*; D011666:Pulmonary Valve Stenosis / Q000209:etiology*; D013250:Steroid Hydroxylases / Q000172:deficiency*; D014844:Vulva / Q000601:surgery
D003907:Dexamethasone; D013250:Steroid Hydroxylases; D003348:Cortisone