21-hydroxylase deficiency classification: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{21-hydroxylase deficiency}}


{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}} {{AAM}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}, {{AAM}}


==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).
21-hydroxylase deficiency may be classified according to the severity of disease and time of onset into two forms, classic and non-classic. The classic form can be sub-divided into two sub-types, which are salt-wasting and non-salt wasting 21-hydroxylase deficiency.
 
==Classification==
==Classification==
21-hydroxylase deficiency my be classified by clinical manifestations in to two forms:
*Classical form, most severe form of 21-hydroxylase deficiency, presents during the [[neonatal]] period and early [[infancy]]. The classic form can be classified in to two subtypes based on [[aldosterone]] status:
**Classic salt wasting, [[aldosterone]] deficient.
**Classic non-salt wasting, normal [[aldosterone]].
*Non-classic form or late-onset 21-hydroxylase deficiency, presents later during the [[adolescence]] period.<ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref><ref name="pmid20823466">{{cite journal |vauthors=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC |title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue=9 |pages=4133–60 |year=2010 |pmid=20823466 |pmc=2936060 |doi=10.1210/jc.2009-2631 |url=}}</ref>


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


* 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.
* Moderate 21-hydroxylase deficiency is referred to as '''''simple virilizing congenital adrenal hyperplasia''''' and typically is recognized as causing virilization of prepubertal children.
* 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>
===Based on virilization of females infant===
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>
*'''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==
{{Reflist|2}}
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2], Ahmad Al Maradni, M.D. [3]

Overview

21-hydroxylase deficiency may be classified according to the severity of disease and time of onset into two forms, classic and non-classic. The classic form can be sub-divided into two sub-types, which are salt-wasting and non-salt wasting 21-hydroxylase deficiency.

Classification

21-hydroxylase deficiency my be classified by clinical manifestations in to two forms:

  • Classical form, most severe form of 21-hydroxylase deficiency, presents during the neonatal period and early infancy. The classic form can be classified in to two subtypes based on aldosterone status:
  • Non-classic form or late-onset 21-hydroxylase deficiency, presents later during the adolescence period.[1][2]

References

  1. ↑ White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
  2. ↑ Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010). "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J. Clin. Endocrinol. Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.

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