11β-hydroxylase deficiency differential diagnosis: Difference between revisions
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{{11β-hydroxylase deficiency}} | {{11β-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{MJ}} | {{CMG}}; {{AE}} {{MJ}} | ||
__NOTOC__ | |||
{{21-hydroxylase deficiency}} | |||
{{CMG}} {{MJ}} | |||
==Overview== | ==Overview== | ||
==References== | 11β-hydroxylase deficiencymust be differentiated from 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, [[androgen insensitivity syndrome]], [[polycystic ovarian syndrome]], and [[adrenal tumor]]. | ||
==Differentiating 11β-hydroxylase deficiency from other diseases== | |||
[[Congenital adrenal hyperplasia]] due to 21-hydroxylase deficiency classic type must be differentiated from diseases that cause [[ambiguous genitalia]]:<ref name="pmid17875484">{{cite journal |vauthors=Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT |title=Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development |journal=Best Pract. Res. Clin. Endocrinol. Metab. |volume=21 |issue=3 |pages=351–65 |year=2007 |pmid=17875484 |doi=10.1016/j.beem.2007.06.003 |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref> | |||
{| class="wikitable" | |||
!Disease name | |||
!Steroid status | |||
!Other laboratory | |||
!Important clinical findings | |||
|- | |||
|Classic type of 21-hydroxylase deficiency | |||
|Increased: | |||
* 17-OHP | |||
* Progesterone | |||
* Androstenedione | |||
* DHEA | |||
Decreased: | |||
* Aldosterone | |||
* Corticosterone (salt-wasting) | |||
* Cortisol (simple virilizing) | |||
| | |||
*Low testosterone levels | |||
| | |||
* Ambigus genitalia in female | |||
* Virilization in female | |||
* Salt-wasting | |||
* Hypotension and hyperkalemia | |||
|- | |||
|[[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]] | |||
|Increased: | |||
* DOC | |||
* 11-Deoxy-cortisol | |||
* 17-hydroxy-progestrone, mild elevation | |||
Decreased: | |||
* Cortisol | |||
* Corticosterone | |||
* Aldosterone | |||
| | |||
* Low testosterone levels | |||
| | |||
* Hypertension and hypokalemia | |||
*Virilization | |||
|- | |||
|[[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]] | |||
|Increased: | |||
* DOC | |||
* Corticosterone | |||
* Progesterone | |||
Decreased: | |||
*Cortisol | |||
* Aldosterone | |||
|Low testosterone levels | |||
| | |||
* Hypertension | |||
* Primary amenorrhea | |||
* Absence of secondary sexual characteristics | |||
* Minimal body hair | |||
|- | |||
|3β-Hydroxysteroid Dehydrogenase | |||
|Increased: | |||
* DHEA | |||
* 17-OH pregneno-lone | |||
* Pregnenolone | |||
Decreased: | |||
* Cortisol | |||
* Aldosterone | |||
| | |||
* Low testosterone levels | |||
| | |||
* vomiting, volume depletion, hyponatremia, and hyperkalemia | |||
* 46-XY infants often show undervirilization, due to a block in testosterone synthesis | |||
|- | |||
|Gestational hyperandrogenism | |||
| | |||
* Variable levels, depends on the cause of disease | |||
| | |||
* Maternal serum androgen concentrations (usually testosterone and androstenedione) are high | |||
* If virilization is caused by exogenous hormone administration, the values may be low because the offending hormone is usually a synthetic steroid not measured in assays for testosterone or other androgens | |||
| | |||
* Androgen excess sign and symptoms in mother | |||
* History of androgen containing medication consumption during pregnancy in mother | |||
* Virilization in a 46,XX individual with normal female internal anatomy | |||
* Causes include maternal luteoma or theca-lutein cysts, and placental aromatase enzyme deficiency | |||
|} | |||
== References == | |||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 20:30, 19 July 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 differential diagnosis On the Web |
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American Roentgen Ray Society Images of 11β-hydroxylase deficiency differential diagnosis |
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11β-hydroxylase deficiency differential diagnosis in the news |
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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 differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
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21-hydroxylase deficiency Microchapters |
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Differentiating 21-Hydroxylase Deficiency from other Diseases |
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Diagnosis |
|
Treatment |
|
Case Studies |
|
11β-hydroxylase deficiency differential diagnosis On the Web |
|
American Roentgen Ray Society Images of 11β-hydroxylase deficiency differential diagnosis |
|
11β-hydroxylase deficiency differential diagnosis in the news |
|
Risk calculators and risk factors for 11β-hydroxylase deficiency differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3] Mehrian Jafarizade, M.D [4]
Overview
11β-hydroxylase deficiencymust be differentiated from 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, androgen insensitivity syndrome, polycystic ovarian syndrome, and adrenal tumor.
Differentiating 11β-hydroxylase deficiency from other diseases
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency classic type must be differentiated from diseases that cause ambiguous genitalia:[1][2]
| Disease name | Steroid status | Other laboratory | Important clinical findings |
|---|---|---|---|
| Classic type of 21-hydroxylase deficiency | Increased:
Decreased:
|
|
|
| 11-β hydroxylase deficiency | Increased:
Decreased:
|
|
|
| 17-α hydroxylase deficiency | Increased:
Decreased:
|
Low testosterone levels |
|
| 3β-Hydroxysteroid Dehydrogenase | Increased:
Decreased:
|
|
|
| Gestational hyperandrogenism |
|
|
|
References
- ↑ Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT (2007). "Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development". Best Pract. Res. Clin. Endocrinol. Metab. 21 (3): 351–65. doi:10.1016/j.beem.2007.06.003. PMID 17875484.
- ↑ White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.