21-hydroxylase deficiency classification: Difference between revisions

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==Overview==
==Overview==
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency may be classified into several subtypes based on severity, time of onset (mild, moderate, and severe), and the presence of [[virilization]] (stage I to stage V).
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency may be classified into several subtypes based on severity, time of onset (mild, moderate, and severe), and the presence of [[virilization]] (stage I to stage V).
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
==Overview==


==Classification==
==Classification==
Congenital adrenal hyperplasia may be classified in to seven different types, based on specified genetic mutation as following:<ref name="pmid28576284">{{cite journal |vauthors=El-Maouche D, Arlt W, Merke DP |title=Congenital adrenal hyperplasia |journal=Lancet |volume= |issue= |pages= |year=2017 |pmid=28576284 |doi=10.1016/S0140-6736(17)31431-9 |url=}}</ref>
* 21-hydroxylase deficiency
** Genetic defects: CYP21A2
** The most common cause of congenital adrenal hyperplasia worldwide, accounting for more than 95 percent of cases, is 21-hydroxylase deficiency** 21-OHD is classified into 3 subtypes according to clinical severity:
*** classic salt wasting (SW)
*** classic simple virilizing (SV)
*** Nonclassic CAH (NCCAH; mild or late onset)<ref name="pmid28476231">{{cite journal |vauthors=Hannah-Shmouni F, Chen W, Merke DP |title=Genetics of Congenital Adrenal Hyperplasia |journal=Endocrinol. Metab. Clin. North Am. |volume=46 |issue=2 |pages=435–458 |year=2017 |pmid=28476231 |doi=10.1016/j.ecl.2017.01.008 |url=}}</ref>
* 11β-hydroxylase deficiency 
** Genetic defect: CYP11B1 
* 17α-hydroxylase/ 17,20-lyase deficiency 
** Genetic defect: CYP17A1 
* 3β-hydroxy-steroid dehydrogenase type 2 deficiency
** Genetic defect: HSD3B2
* P450 oxidoreductase deficiency
** Genetic defect: POR
* Lipoid adrenal hyperplasia
** Genetic defect: StAR
* Cholesterol side chain cleavage enzyme deficiency
** Genetic defect: CYP11A1


===Based on severity and time of onset===
==References==
{{Reflist|2}}


* Severe 21-hydroxylase deficiency causes '''''salt-wasting congenital adrenal hyperplasia''''', with life-threatening vomiting and [[dehydration]] occurring within the first few weeks of life. It is also the most common cause of [[ambiguous genitalia]] due to prenatal [[virilization]] of genetically female (XX) infants.
[[Category:Disease]]
* Moderate 21-hydroxylase deficiency is referred to as '''''simple virilizing congenital adrenal hyperplasia''''' and typically is recognized as causing virilization of prepubertal children.
[[Category:Pediatrics]]
* Milder forms of 21-hydroxylase deficiency is referred to as '''''non-classical congenital adrenal hyperplasia''''' and can cause [[androgen|androgenic]] effects and [[infertility]] in adolescent and adult women.<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]


===Based on virilization of females infant===
{{WikiDoc Help Menu}}
Depending on the severity of hyperandrogenism, a female infant can be mildly affected or severely virilized as to appear to be a male. Andrea Prader devised the following Prader scale as a way of describing the degree of virilization.<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
{{WikiDoc Sources}}
*'''Stage I''':
:*Infant has a mildly large [[clitoris]] and slightly reduced vaginal opening size. This degree may go unnoticed or may be simply assumed to be within normal variation.
*'''Stages II and III''':
:*Represent progressively more severe degrees of virlization. The genitalia is obviously abnormal to the eye, with a phallus intermediate in size and a small vaginal opening.
*'''Stage IV''':
:*Looks more male than female, with an empty scrotum and a phallus with normal size. The phallus is not free enough from the perineum to be pulled into the abdomen towards the umbilicus with a single small urethral/vaginal opening at the base or on the shaft of the phallus.
*'''Stage V''':
:*Denotes complete male virilization, with a normally formed penis with the urethral opening at or near the tip. The scrotum is normally formed, but empty. The internal pelvic organs include normal ovaries and uterus. These infants are not visibly ambiguous and usually assumed to be ordinary boys with [[cryptorchidism|undescended testes]].


==References==
==References==

Revision as of 13:49, 12 July 2017

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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] Ahmad Al Maradni, M.D. [3]

Overview

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency may be classified into several subtypes based on severity, time of onset (mild, moderate, and severe), and the presence of virilization (stage I to stage V).

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [4]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [5]

Overview

Classification

Congenital adrenal hyperplasia may be classified in to seven different types, based on specified genetic mutation as following:[1]

  • 21-hydroxylase deficiency
    • Genetic defects: CYP21A2
    • The most common cause of congenital adrenal hyperplasia worldwide, accounting for more than 95 percent of cases, is 21-hydroxylase deficiency** 21-OHD is classified into 3 subtypes according to clinical severity:
      • classic salt wasting (SW)
      • classic simple virilizing (SV)
      • Nonclassic CAH (NCCAH; mild or late onset)[2]
  • 11β-hydroxylase deficiency
    • Genetic defect: CYP11B1
  • 17α-hydroxylase/ 17,20-lyase deficiency
    • Genetic defect: CYP17A1
  • 3β-hydroxy-steroid dehydrogenase type 2 deficiency
    • Genetic defect: HSD3B2
  • P450 oxidoreductase deficiency
    • Genetic defect: POR
  • Lipoid adrenal hyperplasia
    • Genetic defect: StAR
  • Cholesterol side chain cleavage enzyme deficiency
    • Genetic defect: CYP11A1

References

  1. ↑ El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.
  2. ↑ Hannah-Shmouni F, Chen W, Merke DP (2017). "Genetics of Congenital Adrenal Hyperplasia". Endocrinol. Metab. Clin. North Am. 46 (2): 435–458. doi:10.1016/j.ecl.2017.01.008. PMID 28476231.


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