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Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in infants and children

Author
Deborah P Merke, MD, MS
Section Editors
Lynnette K Nieman, MD
Mitchell E Geffner, MD
Deputy Editor
Kathryn A Martin, MD

INTRODUCTION

Defective conversion of 17-hydroxyprogesterone (17OHP) to 11-deoxycortisol accounts for more than 95 percent of cases of congenital adrenal hyperplasia (CAH) [1,2]. This conversion is mediated by 21-hydroxylase due to mutations in the CYP21A2 gene. Based upon neonatal screening studies that detect classic CAH, 21-hydroxylase deficiency (21OHD) is one of the more common inherited disorders.

The laboratory findings and diagnosis of classic CAH due to 21OHD in neonates and children are reviewed here. The genetics, clinical presentation, and treatment of classic 21OHD in children and adults and an overview of nonclassic CAH are discussed separately. (See "Genetics and clinical presentation 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" and "Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults" and "Diagnosis and treatment of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency".)

CLINICAL MANIFESTATIONS

The clinical spectrum of disease ranges from the most severe to mild forms, depending on the degree of 21-hydroxylase deficiency (21OHD). Three main clinical phenotypes have been described: classic salt-losing, classic non-salt-losing (simple virilizing), and nonclassic (late-onset):

Females with the classic form (salt-losing and non-salt-losing) present with genital atypia. (See "Evaluation of the infant with atypical genitalia (disorder of sex development)".)

Males with the salt-losing form who are not identified by neonatal screening present with failure to thrive, dehydration, hyponatremia, and hyperkalemia typically at 7 to 14 days of life.

              
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Literature review current through: Nov 2017. | This topic last updated: Oct 04, 2017.
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