11β-hydroxylase deficiency physical examination: Difference between revisions

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{{11β-hydroxylase deficiency}}
{{CMG}}; {{AE}} {{Ammu}}
 
{{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]]


<gallery widths=150px>
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}
</gallery>
===HEENT===
===Neck===
===Lungs===
===Heart===


===Abdomen===
[[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]]


===Back===
* Male:
 
** [[Penis|Penile enlargement]]
===Genitourinary===
** [[Hyperpigmentation]] of the [[scrotum]]
 
** [[Testicular mass]]
===Extremities===
** 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>
 
===Neuromuscular===


==References==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Help]]
[[Category:Templates]]

Latest revision as of 18:31, 29 August 2017

Congenital adrenal hyperplasia main page

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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 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


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

References

  1. El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.
  2. 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.
  3. 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.