21-hydroxylase deficiency classification
{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Classification
Depending on severity:
- Severe 21-hydroxylase deficiency causes salt-wasting CAH, 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 CAH; and typically is recognized as causing virilization of prepubertal children.
- Still milder forms of 21-hydroxylase deficiency are referred to as non-classical CAH and can cause androgen effects and infertility in adolescent and adult women.
Depending on onset:
- Early-onset: Severe 21-hydroxylase deficient CAH
- Childhood onset (simple virilizing) CAH
- Late onset (nonclassical) CAH