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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:<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>
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 name="pmid11148508">{{cite journal| author=Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH| title=Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 1 | pages= 26-32 | pmid=11148508 | doi=10.1067/mpd.2001.110527 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11148508  }}</ref><ref name="pmid11148508">{{cite journal| author=Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH| title=Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 1 | pages= 26-32 | pmid=11148508 | doi=10.1067/mpd.2001.110527 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11148508  }}</ref><ref name="pmid9047259">{{cite journal |vauthors=Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J |title=Psychosexual development of women with congenital adrenal hyperplasia |journal=Horm Behav |volume=30 |issue=4 |pages=300–18 |year=1996 |pmid=9047259 |doi=10.1006/hbeh.1996.0038 |url=}}</ref>
===Appearance===
===Appearance===
* Infants will be both [[underweight]] and [[dehydrated]] by appearance.
* Classic salt wasting type: infants will be both [[underweight]] and [[dehydrated]].
* Children before puberty 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===
* [[Hypotension]]
* Classic salt wasting type: hypotension
===Head===
===Head===
* [[Hirsutism]]
* [[Hirsutism]]
* Alopecia
* Deep voice
* Acne
===Genitals===
===Genitals===
* Female in classic type: [[Ambiguous genitalia|Genital ambiguity]], labial fusion
* Female in classic type:
Deep voice, Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks), Infertility
** [[Ambiguous genitalia|Genital ambiguity]]
Alopecia
** Labial fusion
Primary amenorrhea, Acne, menstrual irregularity in young women
* Female in non-classic type:
* Male: Normal appearing at birth(mostly)
** [[Clitoromegaly]]
, [[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).
** Primary amenorrhea
* Female in non-classic type: [[Clitoromegaly]]
** Menstrual irregularity in young women


* Male in classic type:
** [[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).
* Male in non-classic type:
** Normal appearing at birth.
=== Cognitive function: ===
* Female:
** Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
** Cross-gender role behavior
** lower intelligence quotients (IQ)
[[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 13:40, 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][3][3][4]

Appearance

  • Classic salt wasting type: infants will be both underweight and dehydrated.
  • Children before puberty will have tall stature, increased muscle mass, acne, and adult body odor.

Vitals

  • Classic salt wasting type: hypotension

Head

Genitals

  • Female in classic type:
  • Female in non-classic type:
    • Clitoromegaly
    • Primary amenorrhea
    • Menstrual irregularity in young women
  • Male in classic type:
    • 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).
  • Male in non-classic type:
    • Normal appearing at birth.

Cognitive function:

  • Female:
    • Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
    • Cross-gender role behavior
    • lower intelligence quotients (IQ)
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.
  3. ↑ 3.0 3.1 Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH (2001). "Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis". J Pediatr. 138 (1): 26–32. doi:10.1067/mpd.2001.110527. PMID 11148508.
  4. ↑ Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J (1996). "Psychosexual development of women with congenital adrenal hyperplasia". Horm Behav. 30 (4): 300–18. doi:10.1006/hbeh.1996.0038. PMID 9047259.
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