17-beta-hydroxysteroid dehydrogenase deficiency medical therapy: Difference between revisions

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==Medical therapy==
==Medical therapy==
*If the diagnosis of 17 beta hydroxysteroid dehydrogenase deficiency is made at birth, [[gender]] assignment should be discussed. Patients with this disorder usually develop male gender identity and many patients who are raised as girls often change to male gender identity after puberty onset.  Affected Individuals who are raised as males are able to undergo male development without much medical intervention.<ref name="pmid16010463">{{cite journal| author=Cohen-Kettenis PT| title=Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. | journal=Arch Sex Behav | year= 2005 | volume= 34 | issue= 4 | pages= 399-410 | pmid=16010463 | doi=10.1007/s10508-005-4339-4 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16010463  }} </ref><ref name="pmid2082839">{{cite journal| author=Melnik B, Hollmann J, Hofmann U, Yuh MS, Plewig G| title=Lipid composition of outer stratum corneum and nails in atopic and control subjects. | journal=Arch Dermatol Res | year= 1990 | volume= 282 | issue= 8 | pages= 549-51 | pmid=2082839 | doi=10.1007/BF00371952 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2082839  }} </ref>
*If the diagnosis of 17 beta hydroxysteroid dehydrogenase deficiency is made at birth, [[gender assignment]] should be discussed, depending on the expected result of [[virilization]] [[genioplasty]].  
*Patients with 17 beta hydroxysteroid dehydrogenase deficiency have moderate risk of germ cell tumor development and close monitoring is required.<ref name="pmid2082839">{{cite journal| author=Melnik B, Hollmann J, Hofmann U, Yuh MS, Plewig G| title=Lipid composition of outer stratum corneum and nails in atopic and control subjects. | journal=Arch Dermatol Res | year= 1990 | volume= 282 | issue= 8 | pages= 549-51 | pmid=2082839 | doi=10.1007/BF00371952 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2082839  }} </ref>
*Affected individuals who raised as male may [[virilize]] on their own or with the help of [[testosterone]] [[treatment]].
*In female patients who underwent [[gonadectomy]], appropriate intervention with [[estrogen]] therapy should be introduced at the time of puberty to induce [[secondary sexual characteristics]].
*Gender identity starts to develop around age 3 but it is not clear when it can be reliably assessed.
*Gender identity starts to develop around age 3 but it is not clear when it can be reliably assessed.
*The patient and family will require [[psychological]] [[counseling]] to accept the diagnosis and the [[infertility]] that follows it.<ref name="urlThe Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency - FullText - Hormone Research in Paediatrics 2010, Vol. 74, No. 4 - Karger Publishers">{{cite web |url=https://www.karger.com/Article/Fulltext/318004 |title=The Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency - FullText - Hormone Research in Paediatrics 2010, Vol. 74, No. 4 - Karger Publishers |format= |work= |accessdate=}}</ref>


==References==
==References==
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[[Category:Needs content]]
[[Category:Needs english review]]
[[Category:Disease]]
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[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]

Latest revision as of 08:00, 20 October 2022

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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

If the diagnosis of 17 beta hydroxysteroid dehydrogenase deficiency is made at birth, gender assignment should be discussed, depending on the expected result of virilization genioplasty.

Medical therapy

References

  1. "The Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency - FullText - Hormone Research in Paediatrics 2010, Vol. 74, No. 4 - Karger Publishers".

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