17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies: Difference between revisions
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{{CMG}}; {{AE}} {{Abdulkerim}} | {{CMG}}; {{AE}} {{Abdulkerim}} | ||
==Overview== | ==Overview== | ||
17-beta-hydroxysteroid dehydrogenase deficiency is inherited in an [[autosomal recessive]] pattern. | |||
==Molecular genetic studies== | ==Molecular genetic studies== | ||
*17 beta hydroxysteroid dehydrogenase deficiency is inherited in an [[autosomal recessive]] pattern. | *17-beta-hydroxysteroid dehydrogenase deficiency is inherited in an [[autosomal recessive]] pattern. | ||
*A molecular basis of this condition has been shown to be the result of any of twenty [[mutations]] in the [[HSD17B3]] gene, a gene that is expressed predominately in the [[testes]]. <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> | *A molecular basis of this condition has been shown to be the result of any of twenty [[mutations]] in the [[HSD17B3]] gene, a gene that is expressed predominately in the [[testes]]. <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 07:49, 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 molecular genetic studies On the Web |
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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
17-beta-hydroxysteroid dehydrogenase deficiency is inherited in an autosomal recessive pattern.
Molecular genetic studies
- 17-beta-hydroxysteroid dehydrogenase deficiency is inherited in an autosomal recessive pattern.
- A molecular basis of this condition has been shown to be the result of any of twenty mutations in the HSD17B3 gene, a gene that is expressed predominately in the testes. [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.