21-hydroxylase deficiency physical examination: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{21-hydroxylase deficiency}} | {{21-hydroxylase deficiency}} | ||
{{CMG}} {{MJ}} | {{CMG}}; {{AE}} {{MJ}} | ||
==Overview== | ==Overview== | ||
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* Classic salt wasting type: | * Classic salt wasting type: | ||
** [[Infants]] may be [[underweight]] and [[dehydrated]] | ** [[Infants]] may be [[underweight]] and [[dehydrated]] | ||
* Pre-[[pubertal]] changes: | * Pre-[[pubertal]] changes: | ||
** May have tall stature, increased [[muscle mass]], [[Acne vulgaris|acne]], and [[adult]] [[body odor]] | |||
===Vitals=== | ===Vitals=== | ||
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* Female in non-classic type: | * Female in non-classic type may have: | ||
** [[Clitoromegaly]] | ** [[Clitoromegaly]] | ||
* Male in classic type: | * Male in classic type may have: | ||
** [[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 | ** 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: | * Male in non-classic type: | ||
** Normal appearing at birth. | ** Normal appearing at birth. | ||
| Line 45: | Line 46: | ||
** Male-typical [[cognitive]] pattern (better [[Performance status|performance]] on [[Spatial analysis|spatial]] tasks, worse [[Performance status|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) | ||
== References == | == References == | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 22:06, 13 November 2017
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21-hydroxylase deficiency Microchapters |
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Differentiating 21-Hydroxylase Deficiency from other Diseases |
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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.