17-beta-hydroxysteroid dehydrogenase deficiency medical therapy: Difference between revisions
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*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]]. Affected individuals who raised as male may virilize on their own or with the help of [[testosterone]] treatment. | *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]]. 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]]. | *In female patients who underwent [[gonadectomy]], appropriate intervention with [[estrogen]] therapy should be introduced at the time of puberty to induce [[secondary sexual characteristics]]. | ||
*Patients with 17 beta hydroxysteroid dehydrogenase deficiency have moderate risk of germ cell tumor | *Patients with 17 beta hydroxysteroid dehydrogenase deficiency have [[moderate risk]] of [[germ cell tumor]] and close monitoring is required. | ||
*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> | *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== | ||
Revision as of 07:41, 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
- 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. 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.
- Patients with 17 beta hydroxysteroid dehydrogenase deficiency have moderate risk of germ cell tumor and close monitoring is required.
- 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.[1]