21-hydroxylase deficiency physical examination: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{CMG}} {{AE}} {{AAM}}
{{CMG}} {{MJ}}


==Overview==
==Overview==
Patients with 21-hydroxylase deficient congenital adrenal hyperplasia usually appear [[underweight]] and [[dehydrated]]. Physical examination is usually remarkable for [[hypotension]] and [[virilization]].
Patients with 21-hydroxylase deficient congenital adrenal hyperplasia usually appear [[underweight]] and [[dehydrated]]. Physical examination is usually remarkable for [[hypotension]] and [[virilization]].
==Physical Examination==
==Physical Examination==
Common physical examination findings of 21-hydroxylase deficient congenital adrenal hyperplasia include:
Common physical examination findings of 21-hydroxylase deficient congenital adrenal hyperplasia include:<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="pmid15554889">{{cite journal |vauthors=van der Kamp HJ, Wit JM |title=Neonatal screening for congenital adrenal hyperplasia |journal=Eur. J. Endocrinol. |volume=151 Suppl 3 |issue= |pages=U71–5 |year=2004 |pmid=15554889 |doi= |url=}}</ref>
<ref>Peltek Kendirci, Havva Nur et al. 'A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency And Turner Syndrome. Journal of Clinical Research in Pediatric Endocrinology 4.4 (2012): 213-215. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537289/figure/f1/</ref>
===Appearance===
===Appearance===
* Infants will be both [[underweight]] and [[dehydrated]] by appearance.
* Infants will be both [[underweight]] and [[dehydrated]] by appearance.
* Children will have tall stature, increased muscle mass, [[Acne vulgaris|acne]], and adult [[body odor]].  
* Children before puberty will have tall stature, increased muscle mass, [[Acne vulgaris|acne]], and adult [[body odor]].  


===Vitals===
===Vitals===
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* [[Hirsutism]]
* [[Hirsutism]]
===Genitals===
===Genitals===
*[[Ambiguous genitalia|Genital ambiguity]]
* Female in classic type: [[Ambiguous genitalia|Genital ambiguity]], labial fusion
*[[Penis|Penile enlargement]]
Deep voice, Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks), Infertility
*[[Clitoromegaly]]
Alopecia
Primary amenorrhea, Acne, menstrual irregularity in young women
* Male: Normal appearing at birth(mostly)
, [[Penis|Penile enlargement]], Testicular mass, hyperpigmentation of the scrotum, Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).
* Female in non-classic type: [[Clitoromegaly]]
 
[[File:JCRPE-4-213-g1.jpg|thumb|none|350 px|Genital ambiguity]]
[[File:JCRPE-4-213-g1.jpg|thumb|none|350 px|Genital ambiguity]]


== References ==
== References ==
{{Reflist|2}}
{{Reflist|2}}
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[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]

Revision as of 13:20, 14 July 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]

Overview

Patients with 21-hydroxylase deficient congenital adrenal hyperplasia usually appear underweight and dehydrated. Physical examination is usually remarkable for hypotension and virilization.

Physical Examination

Common physical examination findings of 21-hydroxylase deficient congenital adrenal hyperplasia include:[1][2]

Appearance

Vitals

Head

Genitals

Deep voice, Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks), Infertility Alopecia Primary amenorrhea, Acne, menstrual irregularity in young women

  • Male: Normal appearing at birth(mostly)

, Penile enlargement, Testicular mass, hyperpigmentation of the scrotum, Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).

Genital ambiguity

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. van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.