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Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults

Author
Lynnette K Nieman, MD
Section Editor
André Lacroix, MD
Deputy Editor
Kathryn A Martin, MD

INTRODUCTION

Defective conversion of 17-hydroxyprogesterone to 11-deoxycortisol accounts for more than 90 percent of cases of congenital adrenal hyperplasia [1]. This conversion is mediated by 21-hydroxylase, or in current terminology, CYP21A2.

The treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults will be reviewed here. The genetics, clinical manifestations, and diagnosis of 21-hydroxylase deficiency, and the management of infants and children with 21-hydroxylase deficiency are discussed elsewhere. (See "Genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" and "Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" and "Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in infants and children".)

GOALS OF THERAPY

It is important to plan for the transition from pediatric to adult care and to consider additional issues that arise after puberty, such as sexual function [2].

Therapy of 21-hydroxylase deficiency in adults is directed toward providing glucocorticoid in sufficient doses to ensure normal cortisol replacement and to reduce the excessive secretion of both corticotropin-releasing hormone (CRH) and adrenocorticotropic hormone (ACTH) and the degree of hyperandrogenemia.

In patients with the salt-losing form of the disorder, mineralocorticoid is given to restore blood pressure, serum electrolyte concentrations, and extracellular fluid volume to normal.

                       

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Literature review current through: Nov 2016. | This topic last updated: Wed Feb 24 00:00:00 GMT+00:00 2016.
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