21-hydroxylase deficiency classification: Difference between revisions

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'''Depending on severity:'''
'''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.
* 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 CAH'''''; and typically is recognized as causing virilization of prepubertal children.
* 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 CAH''''' and can cause [[androgen]] effects and [[infertility]] in adolescent and adult women.
* 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:'''
'''Depending on onset:'''


* Early-onset: Severe 21-hydroxylase deficient CAH
* Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia
* Childhood onset (simple virilizing) CAH
* Childhood onset (simple virilizing) congenital adrenal hyperplasia
* Late onset (nonclassical) CAH
* Late onset (nonclassical) congenital adrenal hyperplasia
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]
[[Category:Intersexuality]]
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Revision as of 15:04, 3 September 2015

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]

Overview

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

References

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