21-hydroxylase deficiency differential diagnosis: Difference between revisions

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{{Congenital adrenal hyperplasia due to 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==
[[Congenital adrenal hyperplasia]] due to 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]], [[polycystic ovarian 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]]:
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"
!Disease name
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease name
!Steroid status
! colspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Steroid status
!Other laboratory
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical findings
!Important distinguishing findings
|-
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Increased
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Decreased
|-
|-
|Classic type of 21-hydroxylase deficiency
| align="center" style="background:#DCDCDC; + |[[21-hydroxylase deficiency|Classic type of 21-hydroxylase deficiency]]
|Increased:
|
* 17-OHP
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* Progesterone
* [[Progesterone]]
* Androstenedione
* [[Androstenedione]]
* DHEA
* [[DHEA]]
Decreased:
|
* Aldosterone
* [[Aldosterone]]
* Corticosterone (salt-wasting)
* [[Corticosterone]] (salt-wasting)
* Cortisol (simple virilizing)
* [[Cortisol]]
|Low testosterone levels
|
|
* [[Ambiguous genitalia]] in female
* [[Virilization]] in female
* Salt-wasting
* [[Hypotension]] and [[hyperkalemia]]
|-
|-
|[[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
| align="center" style="background:#DCDCDC; + |[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
|Increased:
|
* DOC
* [[Deoxycorticosterone]]
* 11-Deoxy-
* 11-Deoxy-[[cortisol]]
* cortisol
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] (mild elevation)
Decreased:
|
* Cortisol
* [[Cortisol]]
* Corticosterone
* [[Corticosterone]]
* Aldosterone  
* [[Aldosterone]]
|Low testosterone levels|
|
* [[Ambiguous genitalia]] in female
* [[Hypertension]] and [[hypokalemia]]
* [[Virilization]]
|-
|-
|[[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]]
| align="center" style="background:#DCDCDC; + |[[17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]]
|Increased:
|
* DOC
* [[Deoxycorticosterone]]
* Corticosterone
* [[Corticosterone]]
* Progesterone
* [[Progesterone]]
Decreased:
*Cortisol
* Aldosterone
|Low testosterone levels
|
|
|-
* [[Cortisol]]
|3β-Hydroxysteroid Dehydrogenase
* [[Aldosterone]]
|Increased:
* DHEA
* 17-OH pregneno-lone
* Pregnenolone
Decreased:
* Cortisol
* Aldosterone
|Low testosterone levels
|
|
* [[Ambiguous genitalia]] in male
* [[Hypertension]]
* [[Primary amenorrhea]]
* Absence of [[secondary sexual characteristics]]
* Minimal [[body hair]]
|-
|-
|Gestational hyperandrogenism
| align="center" style="background:#DCDCDC; + |[[3 beta-hydroxysteroid dehydrogenase deficiency]]
|
|
* [[Dehydroepiandrosterone]]
* [[17-hydroxypregnenolone]]
* [[Pregnenolone]]
|
|
* [[Cortisol]]
* [[Aldosterone]]
|
|
* [[Vomiting]], [[volume depletion]], [[hyponatremia]], and [[hyperkalemia]]
* 46-XY infants often show [[undervirilization]], due to a block in [[testosterone]] synthesis
|-
|-
| align="center" style="background:#DCDCDC; + |Gestational [[hyperandrogenism]]
| colspan="2" |
* 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 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
|}
|}


[[Congenital adrenal hyperplasia]] due to 21-hydroxylase deficiency Non-classic type must be differentiated from diseases that cause virilization and hirsutism in female:
'''[[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"
!Disease name
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease name
!Elevated
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Steroid status
Steroids
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other laboratory
!Decreased steroids
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical findings
!Androgen status
!Important distinguishing findings
|-
|-
|Non-classic type of 21-hydroxylase deficiency
| align="center" style="background:#DCDCDC;" + |Non-classic type of [[21-hydroxylase deficiency]]
|Increased:
|Increased:
* 17-OHP
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* Exaggerated androstene-dione, DHEA, and 17-OHP
* Exaggerated [[Androstenedione]], [[DHEA]], and [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] in response to [[ACTH]]
response to ACTH  
|Low testosterone levels
|
|
* Low [[testosterone]] levels
|
* No symptoms in infancy and male
* [[Virilization]] in females
|-
|-
|[[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
| align="center" style="background:#DCDCDC;" + |[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
|Increased:
|Increased:
* DOC
* DOC
* 11-Deoxy-
* 11-Deoxy-[[Cortisol]]
* cortisol
Decreased:
Decreased:
* Cortisol
* [[Cortisol]]
* Corticosterone
* [[Corticosterone]]
* Aldosterone  
* [[Aldosterone]]
|Low testosterone levels
|
|
|-
* Low [[testosterone]] levels
|[[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]]
|Increased:
* DOC
* Corticosterone
* Progesterone
Decreased:
*Cortisol
* Aldosterone
|Low testosterone levels
|
|
* [[Hypertension]] and [[hypokalemia]]
* [[Virilization]]
|-
|-
|-Hydroxysteroid Dehydrogenase
| align="center" style="background:#DCDCDC;" + |[[3 beta-hydroxysteroid dehydrogenase deficiency]]
|Increased:
|Increased:
* DHEA
* [[DHEA]]
* 17-OH pregneno-lone
* [[17-hydroxypregnenolone]]
* Pregnenolone
* [[Pregnenolone]]
Decreased:
Decreased:
* Cortisol
* [[Cortisol]]
* Aldosterone
* [[Aldosterone]]
|Low testosterone levels
|
|
* 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  
| align="center" style="background:#DCDCDC;" + |[[Polycystic ovary syndrome ]]
|
|
* High [[DHEAS]] and [[androstenedione]] 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
|
|
* Low [[testosterone]] level
|
|
* Older age
* Older age
* Rapidly progressive symptoms
* Rapidly progressive symptoms
|-
|-
|Ovarian virilizing tumor
| align="center" style="background:#DCDCDC;" + |Ovarian [[virilizing]] tumor
|
|
|
* Variable levels depends on [[tumor]] type
|
|
* [[Testosterone]] is high
|
|
* Older age
* Older age
* Rapidly progressive symptoms
* Rapidly progressive symptoms
|-
|-
|Cushing's syndrome.
| align="center" style="background:#DCDCDC;" + |[[Cushing's syndrome]]
|
|
* Increase [[cortisol]] & metabolites
* Variable other [[steroids]]
|
|
* Variable [[mineralocorticoid]] excess
|
|
* [[Cushingoid appearance]]
|-
|-
|hyperprolactinemia
| align="center" style="background:#DCDCDC;" + |[[Hyperprolactinemia]]
|
|
|
|
|-
|Ovarian hyperthecosis 
|
|
|
|-
|Syndromes of severe insulin resistance
|
|
* Normal levels of most of [[steroids]]
|
|
* Increased [[prolactin]]
|
|
* [[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