21-hydroxylase deficiency differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{ | [[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/21-hydroxylase_deficiency]] | ||
{{ | {{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]], [[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== | ||
[[ | 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 | ||
! | ! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical 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]] | ||
| | | | ||
* 17- | * [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] | ||
* Progesterone | * [[Progesterone]] | ||
* Androstenedione | * [[Androstenedione]] | ||
* DHEA | * [[DHEA]] | ||
| | | | ||
* | * [[Aldosterone]] | ||
* [[Corticosterone]] (salt-wasting) | |||
* [[Cortisol]] | |||
| | | | ||
* | * [[Ambiguous genitalia]] in female | ||
* Virilization in female | * [[Virilization]] in female | ||
* Salt-wasting | * Salt-wasting | ||
* Hypotension and hyperkalemia | * [[Hypotension]] and [[hyperkalemia]] | ||
|- | |- | ||
|[[ | | align="center" style="background:#DCDCDC; + |[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]] | ||
| | | | ||
* | * [[Deoxycorticosterone]] | ||
* 11-Deoxy-cortisol | * 11-Deoxy-[[cortisol]] | ||
* 17- | * [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] (mild elevation) | ||
| | | | ||
* | * [[Cortisol]] | ||
* [[Corticosterone]] | |||
* [[Aldosterone]] | |||
| | | | ||
* Hypertension and hypokalemia | * [[Ambiguous genitalia]] in female | ||
*Virilization | * [[Hypertension]] and [[hypokalemia]] | ||
* [[Virilization]] | |||
|- | |- | ||
|[[ | | align="center" style="background:#DCDCDC; + |[[17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]] | ||
| | | | ||
* | * [[Deoxycorticosterone]] | ||
* Corticosterone | * [[Corticosterone]] | ||
* Progesterone | * [[Progesterone]] | ||
| | | | ||
* | * [[Cortisol]] | ||
* | * [[Aldosterone]] | ||
| | | | ||
* Hypertension | * [[Ambiguous genitalia]] in male | ||
* [[Hypertension]] | |||
* Primary amenorrhea | * [[Primary amenorrhea]] | ||
* Absence of secondary sexual characteristics | * Absence of [[secondary sexual characteristics]] | ||
* Minimal body hair | * Minimal [[body hair]] | ||
|- | |- | ||
| | | align="center" style="background:#DCDCDC; + |[[3 beta-hydroxysteroid dehydrogenase deficiency]] | ||
| | | | ||
* | * [[Dehydroepiandrosterone]] | ||
* 17- | * [[17-hydroxypregnenolone]] | ||
* Pregnenolone | * [[Pregnenolone]] | ||
| | | | ||
* | * [[Cortisol]] | ||
* [[Aldosterone]] | |||
| | | | ||
* | * [[Vomiting]], [[volume depletion]], [[hyponatremia]], and [[hyperkalemia]] | ||
* 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 | |||
| | * 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]] | ||
* 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 | * [[Androgen]] excess 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 | ||
* Causes include maternal luteoma or theca-lutein cysts, and placental aromatase enzyme deficiency | * Causes include maternal [[luteoma]] or theca-[[lutein]] [[cysts]], and [[placental]] [[aromatase]] enzyme deficiency | ||
|} | |} | ||
[[ | '''[[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 | ||
!Steroid status | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Steroid status | ||
!Other laboratory | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other laboratory | ||
!Important clinical findings | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical findings | ||
|- | |- | ||
|Non-classic type of 21-hydroxylase deficiency | | align="center" style="background:#DCDCDC;" + |Non-classic type of [[21-hydroxylase deficiency]] | ||
|Increased: | |Increased: | ||
* 17- | * [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] | ||
* Exaggerated | * 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 | * No symptoms in infancy and male | ||
* | * [[Virilization]] in females | ||
|- | |- | ||
|[[ | | align="center" style="background:#DCDCDC;" + |[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]] | ||
|Increased: | |Increased: | ||
* DOC | * DOC | ||
* 11-Deoxy- | * 11-Deoxy-[[Cortisol]] | ||
Decreased: | Decreased: | ||
* Cortisol | * [[Cortisol]] | ||
* Corticosterone | * [[Corticosterone]] | ||
* Aldosterone | * [[Aldosterone]] | ||
| | | | ||
* | * Low [[testosterone]] levels | ||
| | | | ||
* Hypertension | * [[Hypertension]] and [[hypokalemia]] | ||
* [[Virilization]] | |||
* | |||
|- | |- | ||
| | | align="center" style="background:#DCDCDC;" + |[[3 beta-hydroxysteroid dehydrogenase deficiency]] | ||
|Increased: | |Increased: | ||
* DHEA | * [[DHEA]] | ||
* 17- | * [[17-hydroxypregnenolone]] | ||
* Pregnenolone | * [[Pregnenolone]] | ||
Decreased: | Decreased: | ||
* Cortisol | * [[Cortisol]] | ||
* Aldosterone | * [[Aldosterone]] | ||
| | | | ||
* Salt-wasting adrenal | * Low [[testosterone]] levels | ||
* 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. | * 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 | * High [[DHEAS]] and [[androstenedione]] levels | ||
| | | | ||
* 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 | ||
| | | | ||
* Low testosterone level | * 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 | * Variable levels depends on [[tumor]] type | ||
| | | | ||
* Testosterone is high | * [[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 | * Increase [[cortisol]] & metabolites | ||
* Variable other steroids | * Variable other [[steroids]] | ||
| | | | ||
* Variable mineralocorticoid excess | * Variable [[mineralocorticoid]] excess | ||
| | | | ||
* Cushingoid | * [[Cushingoid appearance]] | ||
|- | |- | ||
| | | align="center" style="background:#DCDCDC;" + |[[Hyperprolactinemia]] | ||
| | | | ||
* Normal levels of most of steroids | * Normal levels of most of [[steroids]] | ||
| | | | ||
* Increased prolactin | * Increased [[prolactin]] | ||
| | | | ||
* Infertility, | * [[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:
|
|
|
| 11-β hydroxylase deficiency | Increased:
Decreased: |
|
|
| 3 beta-hydroxysteroid dehydrogenase deficiency | Increased:
Decreased: |
|
|
| Polycystic ovary syndrome |
|
|
|
| Adrenal tumors |
|
|
|
| Ovarian virilizing tumor |
|
|
|
| Cushing's syndrome |
|
||
| Hyperprolactinemia |
|
|
References
- ↑ 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.
- ↑ 2.0 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.
- ↑ Hohl A, Ronsoni MF, Oliveira Md (2014). "Hirsutism: diagnosis and treatment". Arq Bras Endocrinol Metabol. 58 (2): 97–107. PMID 24830586.
- ↑ Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=