17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies: Difference between revisions

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{{CMG}}; {{AE}} {{Abdulkerim}}
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==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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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

  1. 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.

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