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

Author
Richard J Auchus, MD, PhD
Section Editor
Lynnette K Nieman, 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, P450 21A2, encoded by the CYP21A2 gene. This results in 1) impaired cortisol biosynthesis and adrenal insufficiency, and 2) adrenal hyperandrogenism (figure 1).

Patients with "classic" or the most severe form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) present during the neonatal period and early infancy with adrenal insufficiency with or without salt losing or as toddlers with virilization. Females have genital ambiguity.

The treatment of classic congenital adrenal hyperplasia due to 21OHD in adults will be reviewed here. The genetics, clinical manifestations, and diagnosis of 21OHD and the management of infants and children with 21OHD 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".)

APPROACH TO MANAGEMENT

Clinical issues — While the issues of adrenal insufficiency and adrenal hyperandrogenism are shared by adults and children with classic 21-hydroxylase deficiency (21OHD), adults have additional health concerns. It is therefore important to plan for the transition from pediatric to adult care and to address issues that arise after puberty. These include sexual dysfunction, hyperandrogenic symptoms (in women), infertility, and long-term complications of the disease and chronic glucocorticoid therapy, such as obesity, short stature, bone loss, and impaired quality of life [2-5]. Patient education and assumption of responsibility for their care is critical for compliance and successful outcomes [6]. (See "Genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", section on 'Clinical presentation'.)

The labeling of "salt wasting" versus "simple virilizing" subtypes of disease, which is important for newborns with classic 21OHD, is confusing and irrelevant for adults. The use of these terms often encourages withholding of vital therapies and should be avoided.

                               

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Literature review current through: May 2017. | This topic last updated: Mar 31, 2017.
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