17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis: Difference between revisions

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Latest revision as of 17:59, 2 July 2022

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
Disease name	Increased	Decreased	Important clinical findings
Classic type of 21-hydroxylase deficiency	17-hydroxyprogesterone Progesterone Androstenedione DHEA	Aldosterone Corticosterone (salt-wasting) Cortisol	Ambiguous genitalia in female Virilization in female Salt-wasting Hypotension and hyperkalemia
11-β hydroxylase deficiency	Deoxycorticosterone 11-Deoxy-cortisol 17-hydroxyprogesterone (mild elevation)	Cortisol Corticosterone Aldosterone	Ambiguous genitalia in female Hypertension and hypokalemia Virilization
17-α hydroxylase deficiency	Deoxycorticosterone Corticosterone Progesterone	Cortisol Aldosterone	Ambiguous genitalia in male Hypertension Primary amenorrhea Absence of secondary sexual characteristics Minimal body hair
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
Gestational hyperandrogenism	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

↑ 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.

Template:WH Template:WS

[pmid30508571-1] 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.

[pmid7810070-2] White PC (1994). "Genetic diseases of steroid metabolism". Vitam Horm. 49: 131–95. doi:10.1016/s0083-6729(08)61147-4. PMID 7810070.

[1]

[2]

@@ Line 1: / Line 1: @@
 __NOTOC__
 {{17-beta-hydroxysteroid dehydrogenase deficiency}}
-Please help WikiDoc by adding content here.  It's easy!  Click  [[Help:How_to_Edit_a_Page|here]]  to learn about editing.
+{{CMG}}, {{AE}} {{Abdulkerim}}
+==Overview==
+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==
 {{reflist|2}}
@@ Line 8: / Line 90: @@
 [[Category:Needs content]]
 [[Category:Disease]]
-[[Category:Endocrinology and Metabolic Disease]]
+[[Category:Endocrinology]]
 [[Category:Genetic disorders]]

17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis: Difference between revisions

Latest revision as of 17:59, 2 July 2022

Overview

Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases

References

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