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Antenatal diagnosis and treatment of congenital adrenal hyperplasia

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Abstract

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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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Endocrinology, New York Presbyterian Hospital-Weill Medical College of Cornell University, 525 East 68th Street, Room M-622, 10021, New York, NY, USA

    Maria I. New MD

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  1. Maria I. New MD
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New, M.I. Antenatal diagnosis and treatment of congenital adrenal hyperplasia. Curr Urol Rep 2, 11–18 (2001). https://doi.org/10.1007/s11934-001-0020-1

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