17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{17-beta-hydroxysteroid dehydrogenase deficiency}} | {{17-beta-hydroxysteroid dehydrogenase deficiency}} | ||
{{CMG}} | {{CMG}}; {{AE}} {{Abdulkerim}} | ||
==Overview== | ==Overview== | ||
==Natural | The characteristic [[phenotype]] at birth is an [[XY]] individual with female or ambiguous external [[genitalia]]. The majority of those affected have female external genitalia and consequently are raised as girls. | ||
==Natural history, Complications and Prognosis== | |||
*The characteristic [[phenotype]] at birth is an [[XY]] individual with female or ambiguous external [[genitalia]]. | |||
*The majority of those affected have female external genitalia and consequently are raised as girls. | |||
*17 beta hydroxysteroid dehydrogenase deficiency has two features; | |||
** Presence of [[wolffian]] [[duct]] [[derivatives]] ([[epididymus]], [[vas deferens]], and [[seminal vesicles]]). | |||
** Progressive [[virilization]] at the time of puberty, both of which depend on the action of [[testosterone]]. | |||
*During puberty, individuals with this [[disease]] develop some male [[secondary sex characteristics]], such as increased [[muscle mass]], [[deepening of the voice]], and development of male pattern facial and body hair. | |||
*Some affected individuals may also experience [[gynecomastia]]. People with this disorder are generally [[infertile]].<ref name="pmid17509588">{{cite journal| author=Mains LM, Vakili B, Lacassie Y, Andersson S, Lindqvist A, Rock JA| title=17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. | journal=Fertil Steril | year= 2008 | volume= 89 | issue= 1 | pages= 228.e13-7 | pmid=17509588 | doi=10.1016/j.fertnstert.2007.02.048 | pmc=2259022 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17509588 }} </ref> | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:needs english review]] | |||
Latest revision as of 07:48, 20 October 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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Diagnosis |
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Treatment |
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Case Studies |
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17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis On the Web |
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FDA on 17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis |
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CDC on 17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis |
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Directions to Hospitals Treating 17-beta-hydroxysteroid dehydrogenase deficiency |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]
Overview
The characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia. The majority of those affected have female external genitalia and consequently are raised as girls.
Natural history, Complications and Prognosis
- The characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia.
- The majority of those affected have female external genitalia and consequently are raised as girls.
- 17 beta hydroxysteroid dehydrogenase deficiency has two features;
- Presence of wolffian duct derivatives (epididymus, vas deferens, and seminal vesicles).
- Progressive virilization at the time of puberty, both of which depend on the action of testosterone.
- During puberty, individuals with this disease develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair.
- Some affected individuals may also experience gynecomastia. People with this disorder are generally infertile.[1]
References
- ↑ Mains LM, Vakili B, Lacassie Y, Andersson S, Lindqvist A, Rock JA (2008). "17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite". Fertil Steril. 89 (1): 228.e13–7. doi:10.1016/j.fertnstert.2007.02.048. PMC 2259022. PMID 17509588.