21-hydroxylase deficiency physical examination: Difference between revisions

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Latest revision as of 15:35, 24 July 2020

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

Hirsutism
Alopecia
Deep voice
Acne

Skin

Genitals

Females in classic type may exhibit:
- Genital ambiguity
- Labial fusion

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:
- 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.

Template:WH Template:WS

[pmid10857554-1] 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.

[pmid15554889-2] van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.

[pmid11148508-3] 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.

[pmid9047259-4] 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.

[pmid128359722-5] 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.

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@@ Line 1: / Line 1: @@
 __NOTOC__
-{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
+{{21-hydroxylase deficiency}}
-{{CMG}} {{AE}} {{AAM}}
+{{CMG}}; {{AE}} {{MJ}}
 ==Overview==
+Patients with 21-hydroxylase deficiency usually appear [[underweight]] and [[dehydrated]]. Physical examination is usually remarkable for [[hypotension]] and [[virilization]].
 ==Physical Examination==
-===Appearance===
+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>
-* 1-3 week old infant will be both underweight and dehydrated by appearance.
+===General appearance of the patient===
-* Childhood onset (simple virilizing) CAH:  Tall stature, increased muscle mass, [[Acne vulgaris|acne]], and adult [[body odor]] are seen.
+* Classic salt wasting type:
+** [[Infants]] may be [[underweight]] and [[dehydrated]]
+* Pre-[[pubertal]] changes:
+** May have tall stature, increased [[muscle mass]], [[Acne vulgaris|acne]], and [[adult]] [[body odor]]
 ===Vitals===
-* Blood pressure may be low in salt-wasting crises in infancy
+* Classic salt-wasting type: [[hypotension]]
+* [[Reflex tachycardia]]
 ===Head===
 * [[Hirsutism]]
+* [[Alopecia]]
+* Deep voice
+* [[Acne]]
+===Skin===
+* [[Acne]]
+* [[Hyperpigmentation]]
 ===Genitals===
-*[[ambiguous genitalia|genital ambiguity]]
+* Females in classic type may exhibit:
-*[[penis]] enlargement
+** [[Ambiguous genitalia|Genital ambiguity]]
-*[[clitoris|clitoral]] enlargement
+** [[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 ==
 {{Reflist|2}}
-{{WikiDoc Help Menu}}
+{{WH}}
-{{WikiDoc Sources}}
+{{WS}}
 [[Category:Disease]]
 [[Category:Pediatrics]]
@@ Line 29: / Line 57: @@
 [[Category:Genetic disorders]]
 [[Category:Intersexuality]]
+[[Category:Medicine]]
+[[Category: Up-To-Date]]