21-hydroxylase deficiency classification

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Classification

Depending on severity:

• Severe 21-hydroxylase deficiency causes salt-wasting congenital adrenal hyperplasia, with life-threatening vomiting and dehydration occurring within the first few weeks of life. Severe 21-hydroxylase deficiency is also the most common cause of ambiguous genitalia due to prenatal virilization of genetically female (XX) infants.
• Moderate 21-hydroxylase deficiency is referred to as simple virilizing congenital adrenal hyperplasia; and typically is recognized as causing virilization of prepubertal children.
• Still milder forms of 21-hydroxylase deficiency are referred to as non-classical congenital adrenal hyperplasia and can cause androgen effects and infertility in adolescent and adult women.

Depending on onset:

• Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia
• Childhood onset (simple virilizing) congenital adrenal hyperplasia
• Late onset (nonclassical) congenital adrenal hyperplasia