Abstract
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders
that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase
deficiency associated with mutations in the 21-hydroxylase gene, which is located
at chromosome 6p21. The clinical features associated with each disorder of adrenal
steroidogenesis represent a clinical spectrum that reflect the consequences of the
specific mutations. Treatment goals include normal linear growth velocity and “on-time”
puberty in affected children. For adolescent and adult women, treatment goals include
regularization of menses, prevention of progression of hirsutism, and preservation
of fertility. For adolescent and adult men, prevention and early treatment of testicular
adrenal rest tumors is beneficial. In this article key aspects regarding pathophysiology,
diagnosis, and treatment of congenital adrenal hyperplasia are reviewed.
Key Words
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Article info
Publication history
Published online: April 24, 2017
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Conflict of Interest: None.
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© 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc.
