17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis: Difference between revisions
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{{17-beta-hydroxysteroid dehydrogenase deficiency}} | {{17-beta-hydroxysteroid dehydrogenase deficiency}} | ||
{{CMG}}, {{AE}} {{Abdulkerim}} | |||
==Overview== | |||
17 beta hydroxysteroid dehydrogenase deficiency should be differentiated from other diseases that cause [[ambiguous genitalia]] | |||
==Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases== | |||
*17 beta hydroxysteroid dehydrogenase deficiency should be differentiated from other diseases that cause [[ambiguous genitalia]].<ref name="pmid30508571">{{cite journal| author=Folsom LJ, Hjaige M, Liu J, Eugster EA, Auchus RJ| title=Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency. | journal=Mol Cell Endocrinol | year= 2019 | volume= 489 | issue= | pages= 3-8 | pmid=30508571 | doi=10.1016/j.mce.2018.11.014 | pmc=6511466 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30508571 }} </ref><ref name="pmid7810070">{{cite journal| author=White PC| title=Genetic diseases of steroid metabolism. | journal=Vitam Horm | year= 1994 | volume= 49 | issue= | pages= 131-95 | pmid=7810070 | doi=10.1016/s0083-6729(08)61147-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7810070 }} </ref> | |||
{| class="wikitable" | |||
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease name | |||
! 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 | |||
|- | |||
| align="center" style="background:#DCDCDC; + |[[21-hydroxylase deficiency|Classic type of 21-hydroxylase deficiency]] | |||
| | |||
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] | |||
* [[Progesterone]] | |||
* [[Androstenedione]] | |||
* [[DHEA]] | |||
| | |||
* [[Aldosterone]] | |||
* [[Corticosterone]] (salt-wasting) | |||
* [[Cortisol]] | |||
| | |||
* [[Ambiguous genitalia]] in female | |||
* [[Virilization]] in female | |||
* Salt-wasting | |||
* [[Hypotension]] and [[hyperkalemia]] | |||
|- | |||
| align="center" style="background:#DCDCDC; + |[[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]] | |||
|- | |||
| align="center" style="background:#DCDCDC; + |[[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]] | |||
|- | |||
| 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 | |||
|} | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Latest revision as of 17:59, 2 July 2022
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17-beta-hydroxysteroid dehydrogenase deficiency Microchapters |
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Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]
Overview
17 beta hydroxysteroid dehydrogenase deficiency should be differentiated from other diseases that cause ambiguous genitalia
Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases
- 17 beta hydroxysteroid dehydrogenase deficiency should be differentiated from other diseases that cause ambiguous genitalia.[1][2]
| Disease name | Steroid status | 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 |
| ||
| 3 beta-hydroxysteroid dehydrogenase deficiency |
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| Gestational hyperandrogenism |
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References
- ↑ Folsom LJ, Hjaige M, Liu J, Eugster EA, Auchus RJ (2019). "Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency". Mol Cell Endocrinol. 489: 3–8. doi:10.1016/j.mce.2018.11.014. PMC 6511466 Check
|pmc=value (help). PMID 30508571. - ↑ White PC (1994). "Genetic diseases of steroid metabolism". Vitam Horm. 49: 131–95. doi:10.1016/s0083-6729(08)61147-4. PMID 7810070.