11β-hydroxylase deficiency physical examination: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}} | {{Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{MJ}} | ||
==Overview== | ==Overview== | ||
Patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is usually remarkable for [[gynaecomastia]], [[hyperpigmentation]], [[hypertension]], and ambigous genitalia. | Patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is usually remarkable for [[gynaecomastia]], [[hyperpigmentation]], [[hypertension]], and ambigous genitalia. | ||
==Physical Examination== | ==Physical Examination== | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
| Line 10: | Line 10: | ||
===Vital Signs=== | ===Vital Signs=== | ||
* [[Hypertension]] | * [[Hypertension]] | ||
===Head=== | |||
* [[Hirsutism]] | |||
* Alopecia | |||
* Deep voice | |||
* Acne | |||
===Skin=== | ===Skin=== | ||
* [[Acne]] | * [[Acne]] | ||
* [[Hyperpigmentation]] | * [[Hyperpigmentation]] | ||
=== | ===Genitals=== | ||
* | * Female in: | ||
** [[Ambiguous genitalia|Genital ambiguity]] | |||
** Labial fusion | |||
** [[Clitoromegaly]] | |||
[[File:JCRPE-4-213-g1.jpg|thumb|none|350 px|Genital ambiguity]] | |||
* 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| | {{reflist|2}} | ||
Revision as of 14:30, 20 July 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 congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is usually remarkable for gynaecomastia, hyperpigmentation, hypertension, and ambigous genitalia.
Physical Examination
Appearance of the Patient
- Gynaecomastia
- Short stature
Vital Signs
Head
- Hirsutism
- Alopecia
- Deep voice
- Acne
Skin
Genitals
- Female in:
- Genital ambiguity
- Labial fusion
- Clitoromegaly
- 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.