Antenatal diagnosis and treatment of congenital adrenal hyperplasia.
Congenital adrenal hyperplasia (CAH) is a family of monogenic autosomal recessive disorders of steroidogenesis in which enzymatic defects result in impaired synthesis of cortisol by the adrenal cortex. The adrenal 21-hydroxylase (21-OH) enzyme is one of five enzymes necessary for the synthesis of cortisol from cholesterol, and its deficiency is the most common enzymatic defect causing CAH. 21-OH deficiency (21-OHD) occurs in a classical form that can cause genital ambiguity at birth in genetic females. Newborn males have normal genitalia. Prenatal treatment of 21-hydroxylase deficiency with dexamethasone has been used for approximately 15 years. An algorithm was developed for prenatal diagnosis and treatment.
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Department of Pediatrics, Division of Pediatric Endocrinology, New York Presbyterian Hospital-Weill Medical College of Cornell University, 525 East 68th Street, Room M-622, New York, NY 10021, USA. minew@mail.med.cornell.edu
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D003907:Dexamethasone / Q000627:therapeutic use*; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005938:Glucocorticoids; D003907:Dexamethasone