11β-hydroxylase deficiency differential diagnosis: Difference between revisions

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11β-hydroxylase deficiency must be differentiated from diseases that cause [[ambiguous genitalia]] such as [[21-hydroxylase deficiency]], [[17 alpha-hydroxylase deficiency]], [[3 beta-hydroxysteroid dehydrogenase deficiency]] and Gestational [[hyperandrogenism]].
11β-hydroxylase deficiency must be differentiated from diseases that cause [[ambiguous genitalia]] such as [[21-hydroxylase deficiency]], [[17 alpha-hydroxylase deficiency]], [[3 beta-hydroxysteroid dehydrogenase deficiency]] and Gestational [[hyperandrogenism]].


==11β-hydroxylase deficiency==
==Differentiating 11β-hydroxylase deficiency from other diseases==
11β-hydroxylase deficiency must be differentiated from diseases that cause [[ambiguous genitalia]] such as [[21-hydroxylase deficiency]], [[17 alpha-hydroxylase deficiency]], [[3 beta-hydroxysteroid dehydrogenase deficiency]] and Gestational [[hyperandrogenism]]:<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 11-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>


{| class="wikitable"
{| class="wikitable"
!Disease name
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease name
! colspan="2" |Laboratory tests
! colspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Steroid status
!Important clinical findings
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical findings
|-
|-
!
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Increased
!Increased
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Decreased
!Decreased
!
|-
|-
|[[21-hydroxylase deficiency|Classic type of 21-hydroxylase deficiency]]
|[[21-hydroxylase deficiency|Classic type of 21-hydroxylase deficiency]]
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* [[Aldosterone]]
* [[Aldosterone]]
* [[Corticosterone]] (salt-wasting)
* [[Corticosterone]] (salt-wasting)
* [[Cortisol]] (simple [[virilizing]])
* [[Cortisol]] ([[virilization]])
|
|
* [[Ambiguous genitalia]] in female
* [[Ambiguous genitalia]] in female
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* [[Deoxycorticosterone]]
* [[Deoxycorticosterone]]
* 11-Deoxy-[[cortisol]]
* 11-Deoxy-[[cortisol]]
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], mild elevation
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] (mild elevation)
|
|
* [[Cortisol]]
* [[Cortisol]]
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* 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" |
| colspan="2" |
* Maternal serum [[androgen]] concentrations (usually [[testosterone]] and [[androstenedione]]) are high  
* 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]]
* 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 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
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|}
|}


11β-hydroxylase deficiency must be differentiated from diseases that cause [[virilization]] and [[hirsutism]] in female:<ref name="pmid24830586">{{cite journal |vauthors=Hohl A, Ronsoni MF, Oliveira Md |title=Hirsutism: diagnosis and treatment |journal=Arq Bras Endocrinol Metabol |volume=58 |issue=2 |pages=97–107 |year=2014 |pmid=24830586 |doi= |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><ref name="ISBN:978-0323297387">{{cite book | last = Melmed | first = Shlomo | title = Williams textbook of endocrinology | publisher = Elsevier | location = Philadelphia, PA | year = 2016 | isbn = 978-0323297387 }}=</ref>
{| class="wikitable"
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease name
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Steroid status
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other laboratory
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical findings
|-
|Non-classic type of [[21-hydroxylase deficiency]]
|Increased:
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* Exaggerated [[Androstenedione]], [[DHEA]], and [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] in response to [[ACTH]]
|
* Low [[testosterone]] levels
|
* No symptoms in infancy and male
* [[Virilization]] in females
|-
|[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
|Increased:
* DOC
* 11-Deoxy-[[Cortisol]]
Decreased:
* [[Cortisol]]
* [[Corticosterone]]
* [[Aldosterone]]
|
* Low [[testosterone]] levels
|
* [[Hypertension]] and [[hypokalemia]]
* [[Virilization]]
|-
|[[3 beta-hydroxysteroid dehydrogenase deficiency]]
|Increased:
* [[DHEA]]
* [[17-hydroxypregnenolone]]
* [[Pregnenolone]]
Decreased:
* [[Cortisol]]
* [[Aldosterone]]
|
* Low [[testosterone]] levels
|
* Salt-wasting [[adrenal crisis]] in infancy
* Mild [[virilization]] of genetically female infants
* [[Undervirilization]] of genetically male infants, making it the only form of [[CAH]] which can cause [[ambiguous genitalia]] in both genetic sexes.
|-
|[[Polycystic ovary syndrome ]]
|
* High [[DHEAS]] and [[androstenedione]] levels
|
* Low [[testosterone]] levels
|
* [[Polycystic ovaries]] in sonography
* [[Obesity]]
* [[PCOS]] is the most common cause of [[hirsutism]] in women
* No evidence another diagnosis
|-
|[[Adrenal tumors]]
|
* Variable levels depends on [[tumor]] type
|
* Low [[testosterone]] level
|
* Older age
* Rapidly progressive symptoms
|-
|Ovarian [[virilizing]] tumor
|
* Variable levels depends on [[tumor]] type
|
* [[Testosterone]] is high
|
* Older age
* Rapidly progressive symptoms
|-
|[[Cushing's syndrome]]
|
* Increase [[cortisol]] & metabolites
* Variable other [[steroids]]
|
* Variable [[mineralocorticoid]] excess
|
* [[Cushingoid appearance]]
|-
|[[Hyperprolactinemia]]
|
* Normal levels of most of [[steroids]]
|
* Increased [[prolactin]]
|
* [[Infertility]], [[galactorrhea]]
|}
== References ==
== References ==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 18:12, 28 August 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

11β-hydroxylase deficiency must be differentiated from diseases that cause ambiguous genitalia such as 21-hydroxylase deficiency, 17 alpha-hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency and Gestational hyperandrogenism.

Differentiating 11β-hydroxylase deficiency from other diseases

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency must be differentiated from diseases that cause ambiguous genitalia:[1][2]

Disease name Steroid status Important clinical findings
Increased Decreased
Classic type of 21-hydroxylase deficiency
11-β hydroxylase deficiency
17-α hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Gestational hyperandrogenism

11β-hydroxylase deficiency must be differentiated from diseases that cause virilization and hirsutism in female:[3][2][4]

Disease name Steroid status Other laboratory Important clinical findings
Non-classic type of 21-hydroxylase deficiency Increased:
  • No symptoms in infancy and male
11-β hydroxylase deficiency Increased:

Decreased:

3 beta-hydroxysteroid dehydrogenase deficiency Increased:

Decreased:

Polycystic ovary syndrome
Adrenal tumors
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Ovarian virilizing tumor
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Cushing's syndrome
Hyperprolactinemia

References

  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.
  2. 2.0 2.1 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.
  3. Hohl A, Ronsoni MF, Oliveira M (2014). "Hirsutism: diagnosis and treatment". Arq Bras Endocrinol Metabol. 58 (2): 97–107. PMID 24830586. Vancouver style error: initials (help)
  4. Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=