11β-hydroxylase deficiency differential diagnosis: Difference between revisions
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11β-hydroxylase deficiencymust be differentiated from 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, [[androgen insensitivity syndrome]], [[polycystic ovarian syndrome]], and [[adrenal tumor]]. | 11β-hydroxylase deficiencymust be differentiated from 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, [[androgen insensitivity syndrome]], [[polycystic ovarian syndrome]], and [[adrenal tumor]]. | ||
[[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> | [[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" | {| class="wikitable" | ||
!Disease name | !Disease name | ||
! | ! colspan="2" |Laboratory tests | ||
!Important clinical findings | !Important clinical findings | ||
|- | |- | ||
|Classic type of 21-hydroxylase deficiency | ! | ||
!Increased | |||
!Decreased | |||
! | |||
|- | |||
|[[21-hydroxylase deficiency|Classic type of 21-hydroxylase deficiency]] | |||
| | | | ||
* | * [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] | ||
* [[Progesterone]] | |||
* [[Androstenedione]] | |||
* [[DHEA]] | |||
| | | | ||
* | * [[Aldosterone]] | ||
* Virilization in female | * [[Corticosterone]] (salt-wasting) | ||
* [[Cortisol]] (simple [[virilizing]]) | |||
| | |||
* [[Ambiguous genitalia]] in female | |||
* [[Virilization]] in female | |||
* Salt-wasting | * Salt-wasting | ||
* Hypotension and hyperkalemia | * [[Hypotension]] and [[hyperkalemia]] | ||
|- | |- | ||
|[[ | |[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]] | ||
| | | | ||
* | * [[Deoxycorticosterone]] | ||
* 11-Deoxy-[[cortisol]] | |||
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], mild elevation | |||
| | | | ||
* Hypertension and hypokalemia | * [[Cortisol]] | ||
*Virilization | * [[Corticosterone]] | ||
* [[Aldosterone]] | |||
| | |||
* [[Ambiguous genitalia]] in female | |||
* [[Hypertension]] and [[hypokalemia]] | |||
* [[Virilization]] | |||
|- | |- | ||
|[[ | |[[17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]] | ||
| | | | ||
* Hypertension | * [[Deoxycorticosterone]] | ||
* [[Corticosterone]] | |||
* [[Progesterone]] | |||
| | |||
* [[Cortisol]] | |||
* [[Aldosterone]] | |||
| | |||
* [[Ambiguous genitalia]] in male | |||
* [[Hypertension]] | |||
* Primary amenorrhea | * [[Primary amenorrhea]] | ||
* Absence of secondary sexual characteristics | * Absence of [[secondary sexual characteristics]] | ||
* Minimal body hair | * Minimal [[body hair]] | ||
|- | |- | ||
|3β-Hydroxysteroid Dehydrogenase | |3β-Hydroxysteroid Dehydrogenase | ||
| | | | ||
* | * [[Dehydroepiandrosterone]] | ||
* [[17-hydroxypregnenolone]] | |||
* [[Pregnenolone]] | |||
| | |||
* [[Cortisol]] | |||
* [[Aldosterone]] | |||
| | | | ||
* | * [[Vomiting]], [[volume depletion]], [[hyponatremia]], and [[hyperkalemia]] | ||
* 46-XY infants often show undervirilization, due to a block in testosterone synthesis | * 46-XY infants often show [[undervirilization]], due to a block in [[testosterone]] synthesis | ||
|- | |- | ||
|Gestational hyperandrogenism | |Gestational [[hyperandrogenism]] | ||
| | | colspan="2" | | ||
* 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]] | ||
* 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 | * [[Androgen]] excess sign and symptoms in mother | ||
* History of androgen containing medication consumption during pregnancy in mother | * History of [[androgen]] containing [[medication]] consumption during [[pregnancy]] in mother | ||
* Virilization in a 46,XX individual with normal female internal anatomy | * [[Virilization]] in a 46,XX individual with normal female internal anatomy | ||
* Causes include maternal luteoma or theca-lutein cysts, and placental aromatase enzyme deficiency | * Causes include maternal [[luteoma]] or theca-[[lutein]] [[cysts]], and [[placental]] [[aromatase]] enzyme deficiency | ||
|} | |} | ||
== References == | == References == | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 19:49, 1 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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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
11β-hydroxylase deficiencymust be differentiated from 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, androgen insensitivity syndrome, polycystic ovarian syndrome, and adrenal tumor.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency classic type must be differentiated from diseases that cause ambiguous genitalia:[1][2]
| Disease name | Laboratory tests | Important clinical findings | |
|---|---|---|---|
| Increased | Decreased | ||
| Classic type of 21-hydroxylase deficiency |
|
| |
| 11-β hydroxylase deficiency |
|
| |
| 17-α hydroxylase deficiency |
| ||
| 3β-Hydroxysteroid Dehydrogenase |
| ||
| Gestational hyperandrogenism |
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| |
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.