21-Hydroxylase Deficiency classification: Difference between revisions
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==Overview== | ==Overview== | ||
== Classification == | |||
* 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}} | ||
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{{WS}} | {{WS}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Endocrinology | [[Category:Endocrinology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 20:07, 19 September 2012
Template:21-Hydroxylase Deficiency Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
- 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.