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}} | ||
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==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> | |||
===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}} | ||
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
- Infants will be both underweight and dehydrated by appearance.
- Children before puberty will have tall stature, increased muscle mass, acne, and adult body odor.
Vitals
Head
Genitals
- Female in classic type: Genital ambiguity, labial fusion
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).
- Female in non-classic type: Clitoromegaly
References
- ↑ 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.
- ↑ van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.