21-hydroxylase deficiency differential diagnosis: Difference between revisions

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==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>
[[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" align="center" style="border: 0px; font-size: 90%; margin: 3px;"
{| class="wikitable"
! colspan="2" rowspan="3" align="center" style="background: #4479BA; color: #FFFFFF; " |Disease name
!Disease name
! colspan="2" |Laboratory tests
! colspan="2" |Laboratory tests
!Important clinical findings
!Important clinical findings
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|Gestational [[hyperandrogenism]]
|Gestational [[hyperandrogenism]]
|
|
* 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]]
|
|
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{| class="wikitable"
{| class="wikitable"
! rowspan="2" |Disease name
!Disease name
! colspan="2" |[[Adrenal]] hormones status
!Steroid status
! rowspan="2" |Other laboratory  
!Other laboratory  
! rowspan="2" |Important clinical findings
!Important clinical findings
|-
!Increased
!Decreased
|-
|-
|Non-classic type of 21-hydroxylase deficiency
|Non-classic type of 21-hydroxylase deficiency
|
|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]]
response to ACTH  
response to [[ACTH]]
|
|
|
* Low [[testosterone]] levels
* Low [[testosterone]] levels
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|-
|-
|[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
|[[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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|-
|-
|3β-Hydroxysteroid Dehydrogenase  
|3β-Hydroxysteroid Dehydrogenase  
|
|Increased:
* [[DHEA]]
* [[DHEA]]
* [[17-hydroxypregnenolone]]  
* [[17-hydroxypregnenolone]]  
* [[Pregnenolone]]
* [[Pregnenolone]]
|
Decreased:
* [[Cortisol]]
* [[Cortisol]]
* [[Aldosterone]]
* [[Aldosterone]]
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|
|
* High [[DHEAS]] and [[androstenedione]] levels
* High [[DHEAS]] and [[androstenedione]] levels
|
|
|
* Low [[testosterone]] levels
* Low [[testosterone]] levels
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|
|
* Variable levels depends on [[tumor]] type
* Variable levels depends on [[tumor]] type
|
|
|
* Low [[testosterone]] level
* Low [[testosterone]] level
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|
|
* Variable levels depends on [[tumor]] type
* Variable levels depends on [[tumor]] type
|
|
|
* [[Testosterone]] is high  
* [[Testosterone]] is high  
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* Increase [[cortisol]] & metabolites
* Increase [[cortisol]] & metabolites
* Variable other [[steroids]]
* Variable other [[steroids]]
|
|
|
* Variable [[mineralocorticoid]] excess
* Variable [[mineralocorticoid]] excess
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|
|
* Normal levels of most of [[steroids]]
* Normal levels of most of [[steroids]]
|
|
|
* Increased [[prolactin]]
* Increased [[prolactin]]

Revision as of 14:26, 1 August 2017


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

Overview

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

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:[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

21-hydroxylase deficiency Non-classic type 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:

response to ACTH

  • No symptoms in infancy and male
11-β hydroxylase deficiency Increased:

Decreased:

3β-Hydroxysteroid Dehydrogenase Increased:

Decreased:

  • Salt-wasting adrenal crises 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
  • 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
  • Older age
  • Rapidly progressive symptoms
Ovarian virilizing tumor
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Cushing's syndrome
  • Cushingoid features
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.=