Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency - Degree of Severity

Degree of Severity

The condition can be classified into "salt-wasting", "simple virilizing", and "non-classical" forms.

Type Sex steroid effects Other effects
Severe 21-hydroxylase deficiency causes salt-wasting CAH The most common cause of ambiguous genitalia due to prenatal virilization of genetically female (XX) infants. Life-threatening vomiting and dehydration occurring within the first few weeks of life. Aldosterone and cortisol levels are both reduced.
Moderate 21-hydroxylase deficiency is referred to as simple virilizing CAH Typically is recognized as causing virilization of prepubertal children. Cortisol is reduced, but aldosterone is not.
Still milder forms of 21-hydroxylase deficiency are referred to as non-classical CAH Can cause androgen effects and infertility in adolescent and adult women. Neither aldosterone nor cortisol are reduced.

The salt-wasting and simple virilizing types are sometimes grouped together as "classical".

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