17 alpha-hydroxylase deficiency physical examination: Difference between revisions

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{{Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency}}
{{17 alpha-hydroxylase deficiency}}
{{CMG}}; {{AE}} {{Ammu}}
{{CMG}}; {{AE}} {{MJ}}
 
==Overview==
==Overview==
Patients with congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency usually appear general appearance. Physical examination of patients with congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is usually remarkable for [[gynaecomastia]], [[hypertension]], and [[sexual infantilism]].
Patients with 17 alpha-hydroxylase deficiency usually appear normal. Physical examination of patients with 17 alpha-hydroxylase deficiency is usually remarkable for [[gynaecomastia]], [[hypertension]], and [[sexual infantilism]].
==Physical Examination==
==Physical Examination==
===Appearance of the Patient===
===Appearance of the Patient===
* Patient is stable and well-appeared
=== Chest ===
* [[Gynaecomastia]]
* [[Gynaecomastia]]
===Vital Signs===
===Vital Signs===
* [[Hypertension]]
* [[Hypertension]]
===Genitourinary===
===Genitourinary===
* [[Sexual infantilism]]
* [[Sexual infantilism]]
* No pubic or axillary hair
* No pubic or [[axillary hair]]
In the partial form of 17 alpha-hydroxylase deficiency:
*[[Ambiguous genitalia]] in [[genetically]] pre-[[puberty]] male patients with [[inguinal]] [[testes]] and a blind [[vaginal]] pouch.<ref name="pmid2164530">{{cite journal |vauthors=Moreira AC, Leal AM, Castro M |title=Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=71 |issue=1 |pages=86–91 |year=1990 |pmid=2164530 |doi=10.1210/jcem-71-1-86 |url=}}</ref><ref name="pmid999330">{{cite journal |vauthors=Heremans GF, Moolenaar AJ, van Gelderen HH |title=Female phenotype in a male child due to 17-alpha-hydroxylase deficiency |journal=Arch. Dis. Child. |volume=51 |issue=9 |pages=721–3 |year=1976 |pmid=999330 |pmc=1546244 |doi= |url=}}</ref><ref name="pmid226795">{{cite journal |vauthors=Biglieri EG |title=Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome |journal=J. Steroid Biochem. |volume=11 |issue=1B |pages=653–7 |year=1979 |pmid=226795 |doi= |url=}}</ref>
==References==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]

Latest revision as of 12:12, 23 October 2017

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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 17 alpha-hydroxylase deficiency usually appear normal. Physical examination of patients with 17 alpha-hydroxylase deficiency is usually remarkable for gynaecomastia, hypertension, and sexual infantilism.

Physical Examination

Appearance of the Patient

  • Patient is stable and well-appeared

Chest

Vital Signs

Genitourinary

In the partial form of 17 alpha-hydroxylase deficiency:

References

  1. Moreira AC, Leal AM, Castro M (1990). "Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 71 (1): 86–91. doi:10.1210/jcem-71-1-86. PMID 2164530.
  2. Heremans GF, Moolenaar AJ, van Gelderen HH (1976). "Female phenotype in a male child due to 17-alpha-hydroxylase deficiency". Arch. Dis. Child. 51 (9): 721–3. PMC 1546244. PMID 999330.
  3. Biglieri EG (1979). "Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome". J. Steroid Biochem. 11 (1B): 653–7. PMID 226795.