17 alpha-hydroxylase deficiency physical examination: Difference between revisions
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{{ | {{17 alpha-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{MJ}} | ||
==Overview== | ==Overview== | ||
Patients with | 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=== | ||
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===Genitourinary=== | ===Genitourinary=== | ||
* [[Sexual infantilism]] | * [[Sexual infantilism]] | ||
* No pubic or axillary hair<ref> | * No pubic or axillary hair | ||
In the partial forms of 17 alpha-hydroxylase deficiency: | |||
*Ambiguous genitalia in genetically 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| | {{reflist|2}} | ||
Revision as of 16:42, 7 August 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
Vital Signs
Genitourinary
- Sexual infantilism
- No pubic or axillary hair
In the partial forms of 17 alpha-hydroxylase deficiency:
- Ambiguous genitalia in genetically male patients with inguinal testes and a blind vaginal pouch.[1][2][3]
References
- ↑ 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.
- ↑ 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.
- ↑ 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.