Diagnosis and management of congenital adrenal hyperplasia.
After a generation of appropriately treated patients, it is now clear that most of those affected with congenital adrenal hyperplasia can lead virtually normal lives, in terms of ultimate height and sexual development. But the key is early diagnosis. The underlying biochemical mechanisms in the various forms of the disease are discussed, together with the principles and specifics of adrenal hormone replacement therapy.
D000293:Adolescent; D000308:Adrenocortical Hyperfunction / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000728:Androgens / Q000096:biosynthesis; D002648:Child; D002675:Child, Preschool; D003900:Desoxycorticosterone / Q000008:administration & dosage; D003937:Diagnosis, Differential; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006128:Growth; D006801:Humans; D006854:Hydrocortisone / Q000008:administration & dosage / Q000172:deficiency / Q000378:metabolism / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency; D011247:Pregnancy; D011379:Prognosis; D012732:Sex Determination Analysis; D012733:Sex Differentiation
D000728:Androgens; D005938:Glucocorticoids; D003900:Desoxycorticosterone; D000324:Adrenocorticotropic Hormone; D006899:Mixed Function Oxygenases; D006854:Hydrocortisone