21-Hydroxylase Deficiency overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''Congenital adrenal hyperplasia due to [[21-hydroxylase]] deficiency''' ('''21-OH CAH'''), in all its forms, accounts for about 95% of diagnosed cases of [[congenital adrenal hyperplasia]], and "CAH" in most contexts refers to 21-hydroxylase deficiency. | |||
* 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. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 16:20, 19 September 2012
Template:21-Hydroxylase Deficiency Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and "CAH" in most contexts refers to 21-hydroxylase deficiency.
- 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.