Congenital adrenal hyperplasia differential diagnosis: Difference between revisions

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{{Congenital adrenal hyperplasia}}
{{Congenital adrenal hyperplasia}}


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==References==
 
==Overview==
Congenital adrenal hyperplasia different types must be differentiated from [[androgen insensitivity syndrome]], [[polycystic ovarian syndrome]], [[hyperprolactinemia]], [[cushing syndrome]], and [[adrenal tumor]].
 
==Differentiating congenital adrenal hyperplasia from other diseases==
[[Congenital adrenal hyperplasia]] 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"
!Disease name
! colspan="2" |Laboratory tests
!Important clinical findings
|-
!
!Increased
!Decreased
!
|-
|[[21-hydroxylase deficiency|Classic type of 21-hydroxylase deficiency]]
|
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* [[Progesterone]]
* [[Androstenedione]]
* [[DHEA]]
|
* [[Aldosterone]]
* [[Corticosterone]] (salt-wasting)
* [[Cortisol]] (simple [[virilizing]])
|
* [[Ambiguous genitalia]] in female
* [[Virilization]] in female
* Salt-wasting
* [[Hypotension]] and [[hyperkalemia]]
|-
|[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
|
* [[Deoxycorticosterone]]
* 11-Deoxy-[[cortisol]]
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], mild elevation
|
* [[Cortisol]]
* [[Corticosterone]]
* [[Aldosterone]]
|
* [[Ambiguous genitalia]] in female
* [[Hypertension]] and [[hypokalemia]]
* [[Virilization]]
|-
|[[17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]]
|
* [[Deoxycorticosterone]]
* [[Corticosterone]]
* [[Progesterone]]
|
* [[Cortisol]]
* [[Aldosterone]]
|
* [[Ambiguous genitalia]] in male
* [[Hypertension]]
 
* [[Primary amenorrhea]]
 
* Absence of [[secondary sexual characteristics]]
 
* Minimal [[body hair]]
|-
|3β-Hydroxysteroid Dehydrogenase
|
* [[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
|-
|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 sign and symptoms 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 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"
!Disease name
!Steroid status
!Other laboratory
!Important clinical findings
|-
|Non-classic type of 21-hydroxylase deficiency
|Increased:
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* Exaggerated [[Androstenedione]], [[DHEA]], and [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
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]]
|-
|3β-Hydroxysteroid Dehydrogenase
|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 ==
{{Reflist|2}}
{{Reflist|2}}
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Latest revision as of 15:20, 1 August 2017

Congenital adrenal hyperplasia main page

Overview

Classification

21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia

Differential Diagnosis

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

Overview

Congenital adrenal hyperplasia different types must be differentiated from androgen insensitivity syndrome, polycystic ovarian syndrome, hyperprolactinemia, cushing syndrome, and adrenal tumor.

Differentiating congenital adrenal hyperplasia from other diseases

Congenital adrenal hyperplasia 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

congenital adrenal hyperplasia 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:

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.=