21-hydroxylase deficiency differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{21-hydroxylase deficiency}} | {{21-hydroxylase deficiency}} | ||
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{| class="wikitable" | {| class="wikitable" | ||
!Disease name | !Disease name | ||
! | ! colspan="2" |Laboratory tests | ||
!Important clinical findings | !Important clinical findings | ||
|- | |||
! | |||
!Increased | |||
!Decreased | |||
! | |||
|- | |- | ||
|Classic type of 21-hydroxylase deficiency | |Classic type of 21-hydroxylase deficiency | ||
| | | | ||
* 17-OHP | * 17-OHP | ||
* Progesterone | * Progesterone | ||
* Androstenedione | * Androstenedione | ||
* DHEA | * DHEA | ||
| | |||
* Aldosterone | * Aldosterone | ||
* Corticosterone (salt-wasting) | * Corticosterone (salt-wasting) | ||
* Cortisol (simple virilizing) | * Cortisol (simple virilizing) | ||
| | | | ||
* Ambigus genitalia in female | * Ambigus genitalia in female | ||
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|- | |- | ||
|[[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]] | |[[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]] | ||
| | | | ||
* DOC | * DOC | ||
* 11-Deoxy-cortisol | * 11-Deoxy-cortisol | ||
* 17-hydroxy-progestrone, mild elevation | * 17-hydroxy-progestrone, mild elevation | ||
| | |||
* Cortisol | * Cortisol | ||
* Corticosterone | * Corticosterone | ||
* Aldosterone | * Aldosterone | ||
| | | | ||
* Ambigus genitalia in female | * Ambigus genitalia in female | ||
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|- | |- | ||
|[[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]] | |[[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]] | ||
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* DOC | * DOC | ||
* Corticosterone | * Corticosterone | ||
* Progesterone | * Progesterone | ||
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*Cortisol | * Cortisol | ||
* Aldosterone | * Aldosterone | ||
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* Ambigus genitalia in male | * Ambigus genitalia in male | ||
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|- | |- | ||
|3β-Hydroxysteroid Dehydrogenase | |3β-Hydroxysteroid Dehydrogenase | ||
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* DHEA | * DHEA | ||
* 17-OH pregneno-lone | * 17-OH pregneno-lone | ||
* Pregnenolone | * Pregnenolone | ||
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* Cortisol | * Cortisol | ||
* Aldosterone | * Aldosterone | ||
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* Vomiting, volume depletion, hyponatremia, and hyperkalemia | * Vomiting, volume depletion, hyponatremia, and hyperkalemia | ||
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* 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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* Androgen excess sign and symptoms in mother | * Androgen excess sign and symptoms 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 | ||
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[[ | [[21-hydroxylase deficiency]] Non-classic type 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" | {| class="wikitable" | ||
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* Exaggerated androstene-dione, DHEA, and 17-OHP | * Exaggerated androstene-dione, DHEA, and 17-OHP | ||
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 | ||
|- | |- | ||
|[[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]] | |[[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency|11-β hydroxylase deficiency]] | ||
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* Corticosterone | * Corticosterone | ||
* Aldosterone | * Aldosterone | ||
|Low testosterone levels | | | ||
* Low testosterone levels | |||
| | | | ||
* Hypertension and hypokalemia | * Hypertension and hypokalemia | ||
* Virilization | * Virilization | ||
|- | |- | ||
|3β-Hydroxysteroid Dehydrogenase | |3β-Hydroxysteroid Dehydrogenase | ||
| Line 154: | Line 134: | ||
* Cortisol | * Cortisol | ||
* Aldosterone | * Aldosterone | ||
|Low testosterone levels | | | ||
* Low testosterone levels | |||
| | | | ||
* Salt-wasting adrenal crises in infancy | * Salt-wasting adrenal crises in infancy | ||
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* Infertility, galactorrea | * Infertility, galactorrea | ||
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== References == | == References == | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 16:15, 26 July 2017
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21-hydroxylase deficiency Microchapters |
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Differentiating 21-Hydroxylase Deficiency from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]
Overview
Congenital adrenal hyperplasia due to 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 |
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| 11-β hydroxylase deficiency |
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| 17-α hydroxylase deficiency |
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| 3β-Hydroxysteroid Dehydrogenase |
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| Gestational hyperandrogenism |
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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 |
|
|
| 11-β hydroxylase deficiency | Increased:
Decreased:
|
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|
| 3β-Hydroxysteroid Dehydrogenase | Increased:
Decreased:
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| Polycystic ovary syndrome |
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| Adrenal tumors |
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| Ovarian virilizing tumor |
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| Cushing's syndrome |
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| Hyperprolactinemia |
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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 M (2014). "Hirsutism: diagnosis and treatment". Arq Bras Endocrinol Metabol. 58 (2): 97–107. PMID 24830586. Vancouver style error: initials (help)
- ↑ Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=