21-hydroxylase deficiency physical examination: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{ | {{21-hydroxylase deficiency}} | ||
{{CMG}} {{AE}} {{ | {{CMG}}; {{AE}} {{MJ}} | ||
==Overview== | ==Overview== | ||
Patients with 21-hydroxylase | Patients with 21-hydroxylase deficiency 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 | Common physical examination findings of 21-hydroxylase deficiency 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="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><ref name="pmid128359722">{{cite journal| author=Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ| title=Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. | journal=Eur Radiol | year= 2003 | volume= 13 | issue= 7 | pages= 1597-603 | pmid=12835972 | doi=10.1007/s00330-002-1786-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12835972 }}</ref> | ||
<ref> | ===General appearance of the patient=== | ||
=== | * Classic salt wasting type: | ||
* Infants | ** [[Infants]] may be [[underweight]] and [[dehydrated]] | ||
* | * Pre-[[pubertal]] changes: | ||
** May have tall stature, increased [[muscle mass]], [[Acne vulgaris|acne]], and [[adult]] [[body odor]] | |||
===Vitals=== | ===Vitals=== | ||
* [[ | * Classic salt-wasting type: [[hypotension]] | ||
* [[Reflex tachycardia]] | |||
===Head=== | ===Head=== | ||
* [[Hirsutism]] | * [[Hirsutism]] | ||
* [[Alopecia]] | |||
* Deep voice | |||
* [[Acne]] | |||
===Skin=== | |||
* [[Acne]] | |||
* [[Hyperpigmentation]] | |||
===Genitals=== | ===Genitals=== | ||
*[[Ambiguous genitalia|Genital ambiguity]] | * Females in classic type may exhibit: | ||
*[[Penis|Penile enlargement]] | ** [[Ambiguous genitalia|Genital ambiguity]] | ||
*[[ | ** [[Labial fusion]] | ||
[[ | |||
[[File:Ambiguous genitalia.jpg|thumb|none|350 px|Genital ambiguity|By Patou Tantbirojn, Mana Taweevisit, Suchila Sritippayawan, Boonchai Uerpairojkit. - Diabetic fetopathy associated with bilateral adrenal hyperplasia and ambiguous genitalia: a case report. Journal of Medical Case Reports. 2008; 2 : 251. doi:10.1186/1752-1947-2-251, CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=4980396]] | |||
* Female in non-classic type may have: | |||
** [[Clitoromegaly]] | |||
* Male in classic type may have: | |||
** [[Penis|Penile enlargement]] | |||
** [[Testicular mass]] | |||
** [[Hyperpigmentation]] of the [[scrotum]] | |||
** Early [[virilization]] at two to four years of age with [[pubic hair]] growth, [[Growth spurts|growth spurt]], adult [[body odor]] | |||
* Male in non-classic type: | |||
** Normal appearing at birth. | |||
=== Cognitive function: === | |||
* Female: | |||
** Male-typical [[cognitive]] pattern (better [[Performance status|performance]] on [[Spatial analysis|spatial]] tasks, worse [[Performance status|performance]] on verbal tasks) | |||
** [[Cross-gender]] role [[behavior]] | |||
** Lower intelligence quotients (IQ) | |||
== References == | == References == | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{ | {{WH}} | ||
{{ | {{WS}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
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[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Intersexuality]] | [[Category:Intersexuality]] | ||
[[Category:Medicine]] | |||
[[Category: Up-To-Date]] | |||
Latest revision as of 15:35, 24 July 2020
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21-hydroxylase deficiency Microchapters |
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Differentiating 21-Hydroxylase Deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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21-hydroxylase deficiency physical examination On the Web |
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American Roentgen Ray Society Images of 21-hydroxylase deficiency physical examination |
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Risk calculators and risk factors for 21-hydroxylase deficiency physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
Patients with 21-hydroxylase deficiency usually appear underweight and dehydrated. Physical examination is usually remarkable for hypotension and virilization.
Physical Examination
Common physical examination findings of 21-hydroxylase deficiency include:[1][2][3][4][5]
General appearance of the patient
- Classic salt wasting type:
- Infants may be underweight and dehydrated
- Pre-pubertal changes:
- May have tall stature, increased muscle mass, acne, and adult body odor
Vitals
- Classic salt-wasting type: hypotension
- Reflex tachycardia
Head
Skin
Genitals
- Females in classic type may exhibit:
- Female in non-classic type may have:
- Male in classic type may have:
- Penile enlargement
- Testicular mass
- Hyperpigmentation of the scrotum
- Early virilization at two to four years of age with pubic hair growth, 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)
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.
- ↑ 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.
- ↑ 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.
- ↑ Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ (2003). "Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features". Eur Radiol. 13 (7): 1597–603. doi:10.1007/s00330-002-1786-3. PMID 12835972.