21-hydroxylase deficiency differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{21-hydroxylase deficiency}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/21-hydroxylase_deficiency]]
{{CMG}} {{MJ}}
{{CMG}}; {{AE}} {{MJ}}


==Overview==
==Overview==
21-hydroxylase deficiency must be differentiated from [[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]], [[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]], [[androgen insensitivity syndrome]], -Hydroxysteroid Dehydrogenase, [[polycystic ovarian syndrome]], [[hyperprolactinemia]], [[cushing syndrome]], and [[adrenal tumor]].
21-hydroxylase deficiency must be differentiated from [[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]], [[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]], [[androgen insensitivity syndrome]], [[3 beta-hydroxysteroid dehydrogenase deficiency|3 beta-hydroxysteroid dehydrogenase deficiency]], [[polycystic ovarian syndrome]], [[hyperprolactinemia]], [[cushing syndrome]], and [[adrenal tumor]].


==Differentiating congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other diseases==
==Differentiating congenital adrenal hyperplasia due to 21-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>
21-hydroxylase deficiency classic form should be differentiated from other diseases that cause [[ambiguous genitalia]], and non-classic form should be differentiated from the diseases that cause female [[hirsutism]].
 
'''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"
! rowspan="2" |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
! rowspan="2" |Important clinical findings
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical findings
|-
|-
!Increased
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Increased
!Decreased
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Decreased
|-
|-
|[[21-hydroxylase deficiency|Classic type of 21-hydroxylase deficiency]]
| align="center" style="background:#DCDCDC; + |[[21-hydroxylase deficiency|Classic type of 21-hydroxylase deficiency]]
|
|
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
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* [[Aldosterone]]
* [[Aldosterone]]
* [[Corticosterone]] (salt-wasting)
* [[Corticosterone]] (salt-wasting)
* [[Cortisol]] (simple [[virilizing]])
* [[Cortisol]]
|
|
* [[Ambiguous genitalia]] in female
* [[Ambiguous genitalia]] in female
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* [[Hypotension]] and [[hyperkalemia]]
* [[Hypotension]] and [[hyperkalemia]]
|-
|-
|[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
| align="center" style="background:#DCDCDC; + |[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
|
|
* [[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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* [[Virilization]]
* [[Virilization]]
|-
|-
|[[17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]]
| align="center" style="background:#DCDCDC; + |[[17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]]
|
|
* [[Deoxycorticosterone]]
* [[Deoxycorticosterone]]
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* Minimal [[body hair]]
* Minimal [[body hair]]
|-
|-
|-Hydroxysteroid Dehydrogenase
| align="center" style="background:#DCDCDC; + |[[3 beta-hydroxysteroid dehydrogenase deficiency]]
|
|
* [[Dehydroepiandrosterone]]
* [[Dehydroepiandrosterone]]
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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]]
| align="center" style="background:#DCDCDC; + |Gestational [[hyperandrogenism]]
|
| 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 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
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|}
|}


[[21-hydroxylase deficiency]] Non-classic type 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>
'''[[21-hydroxylase deficiency]] non-classic type must be differentiated from diseases that cause [[virilization]] and [[hirsutism]] in female:'''<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="pmid24830586">{{cite journal| author=Hohl A, Ronsoni MF, Oliveira Md| title=Hirsutism: diagnosis and treatment. | journal=Arq Bras Endocrinol Metabol | year= 2014 | volume= 58 | issue= 2 | pages= 97-107 | pmid=24830586 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24830586  }} </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"
{| class="wikitable"
! rowspan="2" |Disease name
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease name
! colspan="2" |Laboratory tests
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Steroid status
! rowspan="2" |Important clinical findings
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other laboratory
|-
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical findings
!Increased
!Decreased
|-
|-
|Non-classic type of 21-hydroxylase deficiency
| align="center" style="background:#DCDCDC;" + |Non-classic type of [[21-hydroxylase deficiency]]
|Increased:
|Increased:
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* Exaggerated [[Androstenedione]], [[DHEA]], and [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* Exaggerated [[Androstenedione]], [[DHEA]], and [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] in response to [[ACTH]]  
response to [[ACTH]]  
|
|
* Low [[testosterone]] levels
* Low [[testosterone]] levels
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* [[Virilization]] in females
* [[Virilization]] in females
|-
|-
|[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
| align="center" style="background:#DCDCDC;" + |[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
|
|Increased:
* [[Deoxycorticosterone]]
* DOC
* 11-Deoxy-[[cortisol]]
* 11-Deoxy-[[Cortisol]]
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], mild elevation
Decreased:
|
* [[Cortisol]]
* [[Cortisol]]
* [[Corticosterone]]
* [[Corticosterone]]
* [[Aldosterone]]
* [[Aldosterone]]  
|
|
* Low [[testosterone]] levels
* Low [[testosterone]] levels
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* [[Virilization]]
* [[Virilization]]
|-
|-
|-Hydroxysteroid Dehydrogenase
| align="center" style="background:#DCDCDC;" + |[[3 beta-hydroxysteroid dehydrogenase deficiency]]
|
|Increased:
* [[Dehydroepiandrosterone]]
* [[DHEA]]
* [[17-hydroxypregnenolone]]  
* [[17-hydroxypregnenolone]]  
* [[Pregnenolone]]
* [[Pregnenolone]]
|
Decreased:
* [[Cortisol]]
* [[Cortisol]]
* [[Aldosterone]]
* [[Aldosterone]]
Line 137: Line 133:
* Low [[testosterone]] levels
* Low [[testosterone]] levels
|
|
* Salt-wasting adrenal crises in infancy
* Salt-wasting [[adrenal crisis]] in infancy
 
* Mild [[virilization]] of genetically female infants  
* 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.  
* [[Undervirilization]] of genetically male infants, making it the only form of [[CAH]] which can cause [[ambiguous genitalia]] in both genetic sexes.  
|-
|-
|[[Polycystic ovary syndrome ]]
| align="center" style="background:#DCDCDC;" + |[[Polycystic ovary syndrome ]]
|
|
* High [[DHEAS]] and [[androstenedione]] levels
* High [[DHEAS]] and [[androstenedione]] levels
Line 147: Line 144:
* Low [[testosterone]] levels
* Low [[testosterone]] levels
|
|
* Polycystic ovaries in sonography
* [[Polycystic ovaries]] in sonography
* [[Obesity]]  
* [[Obesity]]  
* [[PCOS]] is the most common cause of [[hirsutism]] in women
* [[PCOS]] is the most common cause of [[hirsutism]] in women
* No evidence another diagnosis  
* No evidence another diagnosis  
|-
|-
|[[Adrenal tumors]]
| align="center" style="background:#DCDCDC;" + |[[Adrenal tumors]]
|
|
* Variable levels depends on [[tumor]] type
* Variable levels depends on [[tumor]] type
Line 161: Line 158:
* Rapidly progressive symptoms
* Rapidly progressive symptoms
|-
|-
|Ovarian [[virilizing]] tumor
| align="center" style="background:#DCDCDC;" + |Ovarian [[virilizing]] tumor
|
|
* Variable levels depends on [[tumor]] type
* Variable levels depends on [[tumor]] type
Line 170: Line 167:
* Rapidly progressive symptoms
* Rapidly progressive symptoms
|-
|-
|[[Cushing's syndrome]]
| align="center" style="background:#DCDCDC;" + |[[Cushing's syndrome]]
|
|
* Increase [[cortisol]] & metabolites
* Increase [[cortisol]] & metabolites
Line 177: Line 174:
* Variable [[mineralocorticoid]] excess
* Variable [[mineralocorticoid]] excess
|
|
* Cushingoid features
* [[Cushingoid appearance]]
|-
|-
|[[Hyperprolactinemia]]
| align="center" style="background:#DCDCDC;" + |[[Hyperprolactinemia]]
|
|
* Normal levels of most of [[steroids]]
* Normal levels of most of [[steroids]]
Line 185: Line 182:
* Increased [[prolactin]]
* Increased [[prolactin]]
|
|
* [[Infertility]], [[galactorrea]]
* [[Infertility]], [[galactorrhea]]
|}
|}


== References ==
== References ==
{{Reflist|2}}
{{Reflist|2}}
{{WH}}
{{WS}}
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]
[[Category:Medicine]]
[[Category: Up-To-Date]]​

Latest revision as of 15:38, 24 July 2020


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

21-hydroxylase deficiency must be differentiated from 11-β hydroxylase deficiency, 17-α hydroxylase deficiency, androgen insensitivity syndrome, 3 beta-hydroxysteroid dehydrogenase deficiency, polycystic ovarian syndrome, hyperprolactinemia, cushing syndrome, and adrenal tumor.

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

21-hydroxylase deficiency classic form should be differentiated from other diseases that cause ambiguous genitalia, and non-classic form should be differentiated from the diseases that cause female hirsutism.

21-hydroxylase deficiency classic type 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

21-hydroxylase deficiency non-classic type must be differentiated from diseases that cause virilization and hirsutism in female:[2][3][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 Md (2014). "Hirsutism: diagnosis and treatment". Arq Bras Endocrinol Metabol. 58 (2): 97–107. PMID 24830586.
  4. Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=

Template:WH Template:WS