17-beta-hydroxysteroid dehydrogenase deficiency historical perspective: Difference between revisions
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*17 beta hydroxysteroid dehydrogenase III deficiency is initially described in 1971 by [[Saez]] and his colleagues. | *17 beta hydroxysteroid dehydrogenase III deficiency is initially described in 1971 by [[Saez]] and his colleagues. | ||
*17βHSD-3 enzyme deficiency, previously termed [[17-ketosteroid reductase deficiency]], is the most common [[testosterone]] [[biosynthesis]] defect of 46,XY disorder of sex development. | *17βHSD-3 enzyme deficiency, previously termed [[17-ketosteroid reductase deficiency]], is the most common [[testosterone]] [[biosynthesis]] defect of 46,XY disorder of sex development. | ||
*It shows [[autosomal recessive inheritance]].<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> | *It shows [[autosomal]] [[recessive]] [[inheritance]].<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== | ||
Revision as of 16:47, 6 August 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
17 beta hydroxysteroid dehydrogenase III defiency is initially described in 1971 by Saez and his colleagues.
Historical Perspective
- 17 beta hydroxysteroid dehydrogenase III deficiency is initially described in 1971 by Saez and his colleagues.
- 17βHSD-3 enzyme deficiency, previously termed 17-ketosteroid reductase deficiency, is the most common testosterone biosynthesis defect of 46,XY disorder of sex development.
- It shows autosomal recessive inheritance.[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.