21-hydroxylase deficiency classification: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
 
(24 intermediate revisions by 6 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{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, and the presence of [[virilization]].
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}}
* 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.
{{WS}}
* Moderate 21-hydroxylase deficiency is referred to as '''''simple virilizing congenital adrenal hyperplasia''''' and typically is recognized as causing virilization of prepubertal children.
{{WH}}
* Still 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
*'''Stage 1''':
:*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 2 and 3''':
:*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 4''':
:*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 5''':
:*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]].<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>


==References==
{{Reflist|2}}
[[Category:Disease]]
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Pediatrics]]
Line 32: Line 23:
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]
[[Category:Intersexuality]]
{{WikiDoc Help Menu}}
[[Category:Medicine]]
{{WikiDoc Sources}}
[[Category:Up-To-Date]]
​

Latest revision as of 15:40, 24 July 2020

Congenital adrenal hyperplasia main page

21-hydroxylase deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating 21-Hydroxylase Deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

21-hydroxylase deficiency classification On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of 21-hydroxylase deficiency classification

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on 21-hydroxylase deficiency classification

CDC on 21-hydroxylase deficiency classification

21-hydroxylase deficiency classification in the news

Blogs on 21-hydroxylase deficiency classification

Directions to Hospitals Treating 21-Hydroxylase Deficiency

Risk calculators and risk factors for 21-hydroxylase deficiency classification

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.

Template:WS Template:WH ​

Retrieved from "https://www.wikidoc.org/index.php?title=21-hydroxylase_deficiency_classification&oldid=1632248"