11β-hydroxylase deficiency differential diagnosis: Difference between revisions

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Revision as of 20:12, 19 July 2017

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]

Overview

Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency must be differentiated from [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, androgen insensitivity syndrome, polycystic ovarian syndrome, and adrenal tumor.

Differentiating congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other diseases

Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency 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: 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
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
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

↑ 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.

[pmid17875484-1] 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.

[pmid10857554-2] 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.

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[2]

@@ Line 1: / Line 1: @@
 __NOTOC__
-{{Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}}
+{{11β-hydroxylase deficiency }}
-{{CMG}}; {{AE}} {{Ammu}}
+{{CMG}} {{MJ}}
 ==Overview==
-Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency must be differentiated from other diseases that cause clinical features, such as [[adrenal crisis]],  [[conn syndrome]], [[gastric outlet obstruction]], [[congenital adrenal hyperplasia due to 17-hydroxylase deficiency]], [[congenital adrenal hyperplasia due to 21-hydroxylase deficiency]], [[hypertension]], [[hypokalemia]], [[hypomagnesemia]], [[infertility]], [[polycystic ovarian syndrome]], [[malignant hypertension]], [[Stein-Leventhal syndrome]], and [[viral gastroenteritis]].
+[[Congenital adrenal hyperplasia]] due to 11β-hydroxylase deficiency must be differentiated from [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, [[androgen insensitivity syndrome]], [[polycystic ovarian syndrome]], and [[adrenal tumor]].
-==Differentiating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency from other Diseases==
-* Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency must be differentiated from following diseases:
+==Differentiating congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other diseases==
-:* [[Adrenal crisis]]<ref> Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Wikipedia (2016). https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_11%CE%B2-hydroxylase_deficiency Accessed on January 29, 2016</ref>
+[[Congenital adrenal hyperplasia]] due to 11β-hydroxylase deficiency 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>
-:* [[Conn syndrome]]
+{| class="wikitable"
-:* [[Gastric outlet obstruction]]
+!Disease name
-:* [[Congenital adrenal hyperplasia due to 17-hydroxylase deficiency]]
+!Steroid status
-:* [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]]
+!Other laboratory
-:* [[Congenital hypertrophic pyloric stenosis]]
+!Important clinical findings
-:* [[Hypertension]]
+|-
-:* [[Hypokalemia]]
+|Classic type of 21-hydroxylase deficiency
-:* [[Hypomagnesemia]]
+|Increased:
-:* Iatrogenic cushing syndrome
+* 17-OHP
-:* [[Infertility]]
+* Progesterone
-:* [[Malignant hypertension]]
+* Androstenedione
-:* Male infertility
+* DHEA
-:* [[Polycystic ovarian syndrome]]
+Decreased:
-:* [[Primary aldosteronism]]
+* Aldosterone
-:* [[Stein-Leventhal syndrome]]
+* Corticosterone (salt-wasting)
-:* [[Viral gastroenteritis]]
+* Cortisol (simple virilizing)
-==References==
+|
-{{Reflist|2}}
+*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
-[[Category:Disease]]
+* Minimal body hair
-[[Category:Pediatrics]]
+|-
-[[Category:Endocrinology]]
+|3β-Hydroxysteroid Dehydrogenase
-[[Category:Genetic disorders]]
+|Increased:
-[[Category:Intersexuality]]
+* 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
+|}
-{{WikiDoc Help Menu}}
+== References ==
-{{WikiDoc Sources}}
+{{Reflist|2}}

11β-hydroxylase deficiency differential diagnosis: Difference between revisions

Revision as of 20:12, 19 July 2017

Overview

Differentiating congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other diseases

References

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