11β-hydroxylase deficiency physical examination: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{}} | {{11β-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{ | |||
{{CMG}}; {{AE}} {{MJ}} | |||
==Overview== | ==Overview== | ||
Patients with 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with 11β-hydroxylase deficiency is usually remarkable for [[gynaecomastia|gynecomastia]], [[hyperpigmentation]], [[hypertension]], and [[ambiguous genitalia]]. | |||
==Physical Examination== | ==Physical Examination== | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
* [[Gynaecomastia|Gynecomastia]] | |||
* [[Short stature]] | |||
===Vital Signs=== | ===Vital Signs=== | ||
* [[Hypertension]] | |||
===Head=== | |||
* [[Hirsutism]] | |||
* [[Alopecia]] | |||
* Deep voice | |||
* [[Acne]] | |||
===Skin=== | ===Skin=== | ||
* [[Acne]] | |||
* [[Hyperpigmentation]] | |||
===Genitals=== | |||
* Female: | |||
** [[Ambiguous genitalia|Genital ambiguity]] | |||
** [[Labial fusion]] | |||
** [[Clitoromegaly]] | |||
= | [[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]] | ||
=== | * Male: | ||
** [[Penis|Penile enlargement]] | |||
=== | ** [[Hyperpigmentation]] of the [[scrotum]] | ||
** [[Testicular mass]] | |||
=== | ** Early [[virilization]] at two to four years of age with ([[pubic hair]], [[growth spurt]], adult [[body odor]]).<ref name="pmid28576284">{{cite journal |vauthors=El-Maouche D, Arlt W, Merke DP |title=Congenital adrenal hyperplasia |journal=Lancet |volume= |issue= |pages= |year=2017 |pmid=28576284 |doi=10.1016/S0140-6736(17)31431-9 |url=}}</ref><ref name="pmid6296182">{{cite journal |vauthors=Zachmann M, Tassinari D, Prader A |title=Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients |journal=J. Clin. Endocrinol. Metab. |volume=56 |issue=2 |pages=222–9 |year=1983 |pmid=6296182 |doi=10.1210/jcem-56-2-222 |url=}}</ref><ref name="pmid6607265">{{cite journal |vauthors=Zadik Z, Kahana L, Kaufman H, Benderli A, Hochberg Z |title=Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency) |journal=J. Clin. Endocrinol. Metab. |volume=58 |issue=2 |pages=384–7 |year=1984 |pmid=6607265 |doi=10.1210/jcem-58-2-384 |url=}}</ref> | ||
=== | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Latest revision as of 18:31, 29 August 2017
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11β-hydroxylase deficiency Microchapters |
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Differentiating 11β-hydroxylase deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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11β-hydroxylase deficiency physical examination On the Web |
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American Roentgen Ray Society Images of 11β-hydroxylase deficiency physical examination |
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Directions to Hospitals Treating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency |
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Risk calculators and risk factors for 11β-hydroxylase deficiency physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
Patients with 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with 11β-hydroxylase deficiency is usually remarkable for gynecomastia, hyperpigmentation, hypertension, and ambiguous genitalia.
Physical Examination
Appearance of the Patient
Vital Signs
Head
Skin
Genitals
- Male:
- Penile enlargement
- Hyperpigmentation of the scrotum
- Testicular mass
- Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).[1][2][3]
References
- ↑ El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.
- ↑ Zachmann M, Tassinari D, Prader A (1983). "Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients". J. Clin. Endocrinol. Metab. 56 (2): 222–9. doi:10.1210/jcem-56-2-222. PMID 6296182.
- ↑ Zadik Z, Kahana L, Kaufman H, Benderli A, Hochberg Z (1984). "Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency)". J. Clin. Endocrinol. Metab. 58 (2): 384–7. doi:10.1210/jcem-58-2-384. PMID 6607265.