21-hydroxylase deficiency physical examination: Difference between revisions

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Patients with 21-hydroxylase deficiency usually appear [[underweight]] and [[dehydrated]]. Physical examination is usually remarkable for [[hypotension]] and [[virilization]].
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 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>
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>
===Appearance===
===General appearance of the patient===
* Classic salt wasting type: infants will be both [[underweight]] and [[dehydrated]].
* Classic salt wasting type:
* Children before [[puberty]] will have tall stature, increased [[muscle mass]], [[Acne vulgaris|acne]], and adult [[body odor]].
** [[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]]  
* Classic salt-wasting type: [[hypotension]]  
* [[Reflex tachycardia]]
===Head===
===Head===
* [[Hirsutism]]
* [[Hirsutism]]
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* [[Hyperpigmentation]]
* [[Hyperpigmentation]]
===Genitals===
===Genitals===
* Female in classic type:
* Females in classic type may exhibit:
** [[Ambiguous genitalia|Genital ambiguity]]
** [[Ambiguous genitalia|Genital ambiguity]]
** [[Labial fusion]]
** [[Labial fusion]]
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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 ([[pubic hair]], [[Growth spurts|growth spurt]], adult [[body odor]]).
** 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.
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** 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)
** Lower intelligence quotients (IQ)


== References ==
== References ==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 12:40, 5 September 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 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

Vitals

Head

Skin

Genitals

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


Cognitive function:

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. ↑ 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.
  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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