Diagnosis and treatment of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Lynnette K Nieman, MD
Lynnette K Nieman, MD
- Section Editor — Adrenal Disease
- Senior Investigator
- Bethesda, MD
- Deborah P Merke, MD, MS
Deborah P Merke, MD, MS
- Pediatric Endocrinologist
- Bethesda, MD
Defective conversion of 17-hydroxyprogesterone to 11-deoxycortisol accounts for more than 90 percent of cases of congenital adrenal hyperplasia (CAH) [1-3]. This conversion is mediated by 21-hydroxylase, and is defective due to mutations in the CYP21A2 gene.
The diagnosis and treatment of nonclassic CAH (NCCAH) due to 21-hydroxylase deficiency are reviewed here. The genetics and clinical manifestations of the nonclassic form of 21-hydroxylase deficiency and the classic form of 21-hydroxylase deficiency are reviewed separately. (See "Genetics and clinical presentation of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency" and "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 adults".)
Congenital adrenal hyperplasias (CAHs) are autosomal recessive disorders; 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for 90 percent of cases.
●The most severely affected individuals with classic CAH due to 21-hydroxylase deficiency present during the neonatal period and early infancy with adrenal insufficiency and salt wasting, or in the first few years of life with virilization. Females have ambiguous genitalia.
●Most individuals are identified through neonatal screening; the characteristic biochemical abnormality is a high serum concentration of 17-hydroxyprogesterone. Affected neonates have concentrations greater than 3500 ng/dL (105 nmol/L), with most exceeding 10,000 ng/dL (300 nmol/L).
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