Approach to the patient: the adult with congenital adrenal hyperplasia
Author(s)
Auchus, Richard J
Arlt, Wiebke
Type
Journal Article
Abstract
The most common form of congenital adrenal hyperplasia is steroid 21-hydroxylase deficiency (21OHD). When the nonclassical (mild) form is included, 21OHD is the most common genetic disease in human beings. With the advent of pharmaceutical preparation of glucocorticoids starting in the 1960s and newborn screening starting in the 1990s, the majority of children with 21OHD are reaching adulthood, which has yielded a cohort of patients with, in essence, a new disease. Only recently have some data emerged from cohorts of adults with 21OHD, and in some centers, experience with the management of these patients is growing. These patients suffer from poor health, infertility, characteristic tumors in the adrenal glands and gonads, and consequences of chronic glucocorticoid therapy. Their care is fragmented and inconsistent, and many stop taking their medications out of frustration. Internal medicine residents and endocrinology fellows receive little training in their care, which further discourages their seeking medical attention. Adults with 21OHD have a different physiology from patients with Addison's disease or other androgen excess states, and their needs are different than those of young children with 21OHD. Consequently, their care requires unorthodox treatment and monitoring strategies foreign to most endocrine practitioners. Our goal for this article is to review their physiology, complications, and needs in order to develop rational and effective treatment and monitoring strategies.
Date Issued
2013-07-01
Date Acceptance
2013-05-10
Citation
Journal of Clinical Endocrinology and Metabolism (JCEM), 2013, 98 (7), pp.2645-2655
ISSN
0021-972X
Publisher
Oxford University Press
Start Page
2645
End Page
2655
Journal / Book Title
Journal of Clinical Endocrinology and Metabolism (JCEM)
Volume
98
Issue
7
Copyright Statement
Copyright © 2013 by The Endocrine Society
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/23837188
PII: 98/7/2645
Subjects
BONE-MINERAL DENSITY
Endocrinology & Metabolism
GLUCOCORTICOID TREATMENT
INFERTILITY
Life Sciences & Biomedicine
METABOLISM
PREVALENCE
REST TISSUE
Science & Technology
STEROID 21-HYDROXYLASE DEFICIENCY
TESTOSTERONE
TRANSITION
WOMEN
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2013-07-01