17 alpha-hydroxylase deficiency differential diagnosis: Difference between revisions

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Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause similar clinical features, such as 5-alpha-reductase deficiency and hypogonadism.<ref name="w">Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Wikipedia (2016. https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency  Accessed on February 4, 2016</ref>
Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause similar clinical features, such as 5-alpha-reductase deficiency and hypogonadism.<ref name="w">Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Wikipedia (2016. https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency  Accessed on February 4, 2016</ref>
==Differentiating 17 alpha-hydroxylase deficiency from other Diseases==
==Differentiating 17 alpha-hydroxylase deficiency from other Diseases==
17 alpha-hydroxylase deficiency must be differentiated from diseases with [[primary amenorrhea]], in female phenotype. These diseases include androgen insensitivity syndrome,  
17 alpha-hydroxylase deficiency must be differentiated from diseases with [[primary amenorrhea]], in female phenotype. These diseases include Pregnancy, androgen insensitivity syndrome, 3-beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency,  gonadal dysgenesis, testicular regression syndrome,  LH receptor defects, 5-alpha-reductase type 2 deficiency, AMH receptor defect, 


Mullerian agenesis
,    <ref name="pmid21147889">{{cite journal |vauthors=Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C |title=Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=2 |pages=296–307 |year=2011 |pmid=21147889 |doi=10.1210/jc.2010-1024 |url=}}</ref>
{| class="wikitable"  
{| class="wikitable"  
|-  
|-
! Category
! rowspan="2" | Disease name
! Disease name
! rowspan="2" | Cause
! Cause
! colspan="7" | Differentiating
! Differentiating
|-
!
!Findings
!
!Uterus
!
!Breast development
!
!Testosterone
!
!LH
!
!FSH
!
!Karyotyping
|-  
|-
| rowspan="2" |Congenital adrenal hyperplasia 
| colspan="2" |Pregnancy
| colspan="7" |HCG positive
|-
|3-beta-hydroxysteroid dehydrogenase type 2 deficiency  
|3-beta-hydroxysteroid dehydrogenase type 2 deficiency  
|HSD3B2  ''gene'' mutation
|
|
* HSD3B2  [[gene]] [[mutation]]
|
* Undervirilization in 46,XY individuals due to a block in testosterone biosynthesis.
* Mild virilization in 46,'''XX''' individuals
|Yes in female
|Yes in female
|Low
|Normal
|Normal
|XY and XX
|XY and XX
|-
|-
|17-alpha-hydroxylase deficiency  
|17-alpha-hydroxylase deficiency  
|CYP17A1 gene mutation
|
|In addition to primary amenorrhea: hypertension (which can be severe), absence of secondary sexual characteristics, or minimal body hair
* [[CYP17A1|CYP17A1 gene mutation]]
|
* Female external genitalia
 
* Primary amenorrhea  
* Hypertension
* Absence of secondary sexual characteristics  
* Minimal body hair
|No
|No
|Low
|Normal
|Normal
|XY
|XY
|-
|-
| rowspan="2" |Disorders with abnormal testicular activity 
|[[Gonadal dysgenesis]]
|Gonadal dysgenesis
|
|
* Undeveloped gonads
* Mutations in [[SRY]], FOG2/ZFPM2, and WNT1
|
|
* Female external genitalia  
* Female external genitalia  
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* Streak gonads
* Streak gonads
* karyotyping  
* karyotyping  
|Yes
|Yes
|Low
|High
|High
|XY
|XY
|-
|-
|Testicular regression syndrome
|[[Testicular regression syndrome]]
|
|
* Loss of testicular function and tissue early in development  
* Loss of [[testicular]] function and tissue early in development  
|
|
* Female phenotype with atrophic Müllerian ducts.
* Female phenotype with atrophic Müllerian ducts.
|No
|No
|Low
|High
|High
|XY
|XY
|-
|-
| rowspan="4" |Disorders with abnormal androgen synthesis or response 
|[[LH receptor|LH receptor defects]]
|LH receptor defects
|
|
* LH receptor gene mutation on chromosome 2p21
* [[LH receptor]] [[gene]] [[mutation]] on [[chromosome 2]]
|
|
* Female external genitalia  
* Female external genitalia  
* Lack a uterus and fallopian tubes
* Lack a uterus and fallopian tubes
* Epididymis and vas deferens may be present  
* Epididymis and vas deferens may be present  
* Laboratory evaluation:
* Laboratory:
** Low testosterone 
** Elevated concentration of LH
** Unresponsiveness to hCG  
** Unresponsiveness to hCG  
** Normal levels of testosterone precursors (produced in the adrenal glands).
** Normal levels of testosterone precursors (produced in the adrenal glands).
|No
|No
|High
|High
|
|
|XY
|-
|-
|5-alpha-reductase type 2 deficiency
|[[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]]
|
|
* Autosomal recessive
* [[Autosomal recessive]]
|
|
* Female external genitalia
* Female external genitalia or ambiguous
* Bilateral testes and normal testosterone formation
* Bilateral testes and normal testosterone formation


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* Defective conversion of testosterone to DHT.  
* Defective conversion of testosterone to DHT.  
* Testosterone:DHT ratio is >10:1
* Testosterone:DHT ratio is >10:1
|No
|No
|High to normal
|High to normal
|
|
|XY
|-
|-
|Androgen insensitivity 
|[[Androgen insensitivity syndrome]] 
|
|
* [[Androgen receptor]] defect
|
|
* Female external genitalia
* Female external genitalia
* Resistant to testosterone
|No
|Yes
|Normal male range
|
|
|
|XY
|-
|[[Mullerian agenesis]]
|
* Mutations in ''[[WNT4]]''
|
* Normal female genitalia
* Normal breast development
|No
|Yes
|Normal female range
|
|Normal
|XX
|-
|-
|AMH receptor defect
|[[Ovarian insufficiency|Primary ovarian insufficiency]]
|
* [[Genetic defects]] such as [[turner syndrome]], [[fragile X syndrome]], some other chromosomal defects
|
|
* Normal female genitalia
|Yes
|Yes
|Normal female range
|High
|High
|XX
|-
|[[Hypogonadotropic hypogonadism]]
|
|
* Functional, sellar masses
|
|
* Normal female genitalia,
* No puberty
|Yes
|No
|Normal female range
|Low
|Normal
|XX
|-
|-
|[[Turner syndrome]]
|
* Chromosomal
|
* Female external genitalia
|Yes
|Yes
|Normal female range
|High
|High
|XO
|}  
|}  
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 14:33, 7 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

Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause similar clinical features, such as 5-alpha-reductase deficiency and hypogonadism.[1]

Differentiating 17 alpha-hydroxylase deficiency from other Diseases

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amenorrhea, in female phenotype. These diseases include Pregnancy, androgen insensitivity syndrome, 3-beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, AMH receptor defect,

Mullerian agenesis

, [2]

Disease name Cause Differentiating
Findings Uterus Breast development Testosterone LH FSH Karyotyping
Pregnancy HCG positive
3-beta-hydroxysteroid dehydrogenase type 2 deficiency
  • Undervirilization in 46,XY individuals due to a block in testosterone biosynthesis.
  • Mild virilization in 46,XX individuals
 Yes in female Yes in female Low Normal Normal XY and XX
17-alpha-hydroxylase deficiency
  • Female external genitalia
  • Primary amenorrhea
  • Hypertension
  • Absence of secondary sexual characteristics
  • Minimal body hair
 No No Low Normal Normal XY
Gonadal dysgenesis
  • Mutations in SRY, FOG2/ZFPM2, and WNT1
  • Female external genitalia
  • Intact Mullerian ducts
  • Streak gonads
  • karyotyping
 Yes Yes Low High High XY
Testicular regression syndrome
  • Loss of testicular function and tissue early in development
  • Female phenotype with atrophic Müllerian ducts.
 No No Low High High XY
LH receptor defects
  • Female external genitalia
  • Lack a uterus and fallopian tubes
  • Epididymis and vas deferens may be present
  • Laboratory:
    • Unresponsiveness to hCG
    • Normal levels of testosterone precursors (produced in the adrenal glands).
 No No High High XY
5-alpha-reductase type 2 deficiency
  • Female external genitalia or ambiguous
  • Bilateral testes and normal testosterone formation
  • Impaired external virilization during embryogenesis
  • Defective conversion of testosterone to DHT.
  • Testosterone:DHT ratio is >10:1
 No No High to normal High to normal XY
Androgen insensitivity syndrome 
  • Female external genitalia
  • Resistant to testosterone
 No Yes Normal male range XY
Mullerian agenesis
  • Normal female genitalia
  • Normal breast development
 No Yes Normal female range Normal XX
Primary ovarian insufficiency
  • Normal female genitalia
 Yes Yes Normal female range High High XX
Hypogonadotropic hypogonadism
  • Functional, sellar masses
  • Normal female genitalia,
  • No puberty
 Yes No Normal female range Low Normal XX
Turner syndrome
  • Chromosomal
  • Female external genitalia
 Yes Yes Normal female range High High XO

References

  1. ↑ Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Wikipedia (2016. https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency Accessed on February 4, 2016
  2. ↑ Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C (2011). "Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients". J. Clin. Endocrinol. Metab. 96 (2): 296–307. doi:10.1210/jc.2010-1024. PMID 21147889.
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