21-hydroxylase deficiency physical examination: Difference between revisions
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Patients with 21-hydroxylase deficient usually appear [[underweight]] and [[dehydrated]]. Physical examination is usually remarkable for [[hypotension]] and [[virilization]]. | Patients with 21-hydroxylase deficient 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:<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> | ||
===Appearance=== | ===Appearance=== | ||
* Classic salt wasting type: infants will be both [[underweight]] and [[dehydrated]]. | * 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=== | ||
* Classic salt wasting type: hypotension | * Classic salt-wasting type: [[hypotension]] | ||
===Head=== | ===Head=== | ||
* [[Hirsutism]] | * [[Hirsutism]] | ||
* Alopecia | * [[Alopecia]] | ||
* Deep voice | * Deep voice | ||
* Acne | * [[Acne]] | ||
===Skin=== | ===Skin=== | ||
* [[Acne]] | * [[Acne]] | ||
| Line 24: | Line 24: | ||
* Female in classic type: | * Female in classic type: | ||
** [[Ambiguous genitalia|Genital ambiguity]] | ** [[Ambiguous genitalia|Genital ambiguity]] | ||
** Labial fusion | ** [[Labial fusion]] | ||
[[File:JCRPE-4-213-g1.jpg|thumb|none|350 px|Genital ambiguity]] | [[File:JCRPE-4-213-g1.jpg|thumb|none|350 px|Genital ambiguity]] | ||
| Line 33: | Line 33: | ||
* Male in classic type: | * Male in classic type: | ||
** [[Penis|Penile enlargement]] | ** [[Penis|Penile enlargement]] | ||
** Testicular mass | ** [[Testicular mass]] | ||
** Hyperpigmentation of the scrotum | ** [[Hyperpigmentation]] of the [[scrotum]] | ||
** Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor). | ** Early [[virilization]] at two to four years of age with ([[pubic hair]], [[Growth spurts|growth spurt]], adult [[body odor]]). | ||
* Male in non-classic type: | * Male in non-classic type: | ||
** Normal appearing at birth. | ** Normal appearing at birth. | ||
| Line 41: | Line 41: | ||
=== Cognitive function: === | === Cognitive function: === | ||
* Female: | * Female: | ||
** Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks) | ** Male-typical [[cognitive]] pattern (better [[Performance status|performance]] on [[Spatial analysis|spatial]] tasks, worse [[Performance status|performance]] on verbal tasks) | ||
** Cross-gender role behavior | ** [[Cross-gender]] role [[behavior]] | ||
** lower intelligence quotients (IQ) | ** lower intelligence quotients (IQ) | ||
== References == | == References == | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 17:09, 1 August 2017
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21-hydroxylase deficiency Microchapters |
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Differentiating 21-Hydroxylase Deficiency from other Diseases |
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21-hydroxylase deficiency physical examination On the Web |
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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] Mehrian Jafarizade, M.D [2]
Overview
Patients with 21-hydroxylase deficient usually appear underweight and dehydrated. Physical examination is usually remarkable for hypotension and virilization.
Physical Examination
Common physical examination findings of 21-hydroxylase deficiency:[1][2][3][4][5]
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
Skin
Genitals
- Female in classic type:
- Female in non-classic type:
- 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)
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.