17 alpha-hydroxylase deficiency differential diagnosis: Difference between revisions
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{{CMG}}; {{AE}} {{MJ}} | {{CMG}}; {{AE}} {{MJ}} | ||
==Overview== | ==Overview== | ||
17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause similar clinical features, such as 5-alpha-reductase deficiency and hypogonadism | |||
==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 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, | 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, 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> | , <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> | ||
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|- | |- | ||
!Findings | !Findings | ||
!Uterus | ![[Uterus]] | ||
!Breast development | ![[Breast]] development | ||
!Testosterone | ![[Testosterone]] | ||
!LH | ![[LH]] | ||
!FSH | ![[FSH]] | ||
!Karyotyping | ![[Karyotyping]] | ||
|- | |- | ||
| colspan="2" |Pregnancy | | colspan="2" |[[Pregnancy]] | ||
| colspan="7" |HCG positive | | 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. | * [[Undervirilization]] in 46,XY individuals due to a block in [[testosterone]] biosynthesis. | ||
* Mild virilization in 46, | * Mild [[virilization]] in 46,XX individuals | ||
|Yes in female | |Yes in [[female]] | ||
|Yes in female | |Yes in [[female]] | ||
|Low | |Low | ||
|Normal | |Normal | ||
| Line 41: | Line 40: | ||
|XY and XX | |XY and XX | ||
|- | |- | ||
|17-alpha-hydroxylase deficiency | |[[17-alpha-hydroxylase deficiency]] | ||
| | | | ||
* CYP17A1 gene mutation | * [[CYP17A1|CYP17A1 gene mutation]] | ||
| | | | ||
* Female external genitalia | * Female [[external genitalia]] | ||
* Primary amenorrhea | * [[Primary amenorrhea]] | ||
* Hypertension | * [[Hypertension]] | ||
* Absence of secondary sexual characteristics | * Absence of secondary [[sexual characteristics]] | ||
* Minimal body hair | * Minimal [[body hair]] | ||
|No | |No | ||
|No | |No | ||
| Line 60: | Line 59: | ||
|[[Gonadal dysgenesis]] | |[[Gonadal dysgenesis]] | ||
| | | | ||
* Mutations in SRY, FOG2/ZFPM2, and WNT1 | * Mutations in [[SRY]], FOG2/ZFPM2, and WNT1 | ||
| | | | ||
* Female external genitalia | * Female [[external genitalia]] | ||
* Intact Mullerian ducts | * Intact [[Mullerian ducts]] | ||
* Streak gonads | * [[Streak gonads]] | ||
* karyotyping | * [[karyotyping ]] | ||
|Yes | |Yes | ||
|Yes | |Yes | ||
| Line 75: | Line 74: | ||
|[[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 | * Female phenotype with atrophic [[Mullerian ducts]]. | ||
|No | |No | ||
|No | |No | ||
| Line 87: | Line 86: | ||
|[[LH receptor|LH receptor defects]] | |[[LH receptor|LH receptor defects]] | ||
| | | | ||
* LH receptor gene mutation on chromosome | * [[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: | * Laboratory: | ||
** 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 | ||
|No | |No | ||
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|XY | |XY | ||
|- | |- | ||
|5-alpha-reductase type 2 deficiency | |[[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]] | ||
| | | | ||
* Autosomal recessive | * [[Autosomal recessive]] | ||
| | | | ||
* Female external genitalia or ambiguous | * Female [[external genitalia or ambiguous]] | ||
* Bilateral testes and normal testosterone formation | * Bilateral testes and normal [[testosterone]] formation | ||
* Impaired external virilization during embryogenesis | * Impaired external [[virilization]] during [[embryogenesis]] | ||
* 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 | ||
|No | |No | ||
| Line 119: | Line 118: | ||
|XY | |XY | ||
|- | |- | ||
|Androgen insensitivity | |[[Androgen insensitivity syndrome]] | ||
| | | | ||
* Androgen receptor defect | * [[Androgen receptor]] defect | ||
| | | | ||
* Female external genitalia | * Female [[external genitalia]] | ||
* Resistant to testosterone | * Resistant to [[testosterone]] | ||
|No | |No | ||
|Yes | |Yes | ||
| Line 132: | Line 131: | ||
|XY | |XY | ||
|- | |- | ||
|Mullerian agenesis | |[[Mullerian agenesis]] | ||
| | | | ||
* Mutations in ''WNT4'' | * Mutations in ''[[WNT4]]'' | ||
| | | | ||
* Normal female genitalia | * Normal female [[genitalia]] | ||
* Normal breast development | * Normal [[breast]] development | ||
|No | |No | ||
|Yes | |Yes | ||
|Normal female range | |Normal [[female]] range | ||
| | | | ||
|Normal | |Normal | ||
|XX | |XX | ||
|- | |- | ||
|Primary ovarian insufficiency | |[[Ovarian insufficiency|Primary ovarian insufficiency]] | ||
| | | | ||
* Genetic defects such as turner syndrome, fragile X syndrome, some other chromosomal defects | * [[Genetic defects]] such as [[turner syndrome]], [[fragile X syndrome]], some other chromosomal defects | ||
|Normal female genitalia | | | ||
* Normal [[female genitalia]] | |||
|Yes | |Yes | ||
|Yes | |Yes | ||
| Line 156: | Line 156: | ||
|XX | |XX | ||
|- | |- | ||
|Hypogonadotropic hypogonadism | |[[Hypogonadotropic hypogonadism]] | ||
| | | | ||
* Functional, sellar masses | * Functional, [[sellar]] masses | ||
|Normal female genitalia, | | | ||
No puberty | * Normal [[female genitalia]], | ||
* No [[puberty]] | |||
|Yes | |Yes | ||
|No | |No | ||
| Line 168: | Line 170: | ||
|XX | |XX | ||
|- | |- | ||
|Turner syndrome | |[[Turner syndrome]] | ||
| | | | ||
* Chromosomal | * Chromosomal | ||
| | | | ||
* Female [[external genitalia]] | |||
|Yes | |Yes | ||
|Yes | |Yes | ||
|Normal female range | |Normal [[female]] range | ||
|High | |High | ||
|High | |High | ||
Revision as of 14:40, 7 August 2017
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17 alpha-hydroxylase deficiency Microchapters |
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Differentiating 17 alpha-hydroxylase deficiency from other Diseases |
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Risk calculators and risk factors for 17 alpha-hydroxylase deficiency differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause similar clinical features, such as 5-alpha-reductase deficiency and hypogonadism
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, mullerian agenesis
, [1]
| Disease name | Cause | Differentiating | ||||||
|---|---|---|---|---|---|---|---|---|
| Findings | Uterus | Breast development | Testosterone | LH | FSH | Karyotyping | ||
| Pregnancy | HCG positive | |||||||
| 3-beta-hydroxysteroid dehydrogenase type 2 deficiency |
|
Yes in female | Yes in female | Low | Normal | Normal | XY and XX | |
| 17-alpha-hydroxylase deficiency |
|
No | No | Low | Normal | Normal | XY | |
| Gonadal dysgenesis |
|
|
Yes | Yes | Low | High | High | XY |
| Testicular regression syndrome |
|
|
No | No | Low | High | High | XY |
| LH receptor defects |
|
No | No | High | High | XY | ||
| 5-alpha-reductase type 2 deficiency |
|
No | No | High to normal | High to normal | XY | ||
| Androgen insensitivity syndrome |
|
|
No | Yes | Normal male range | XY | ||
| Mullerian agenesis |
|
No | Yes | Normal female range | Normal | XX | ||
| Primary ovarian insufficiency |
|
|
Yes | Yes | Normal female range | High | High | XX |
| Hypogonadotropic hypogonadism |
|
|
Yes | No | Normal female range | Low | Normal | XX |
| Turner syndrome |
|
|
Yes | Yes | Normal female range | High | High | XO |
References
- ↑ 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.