17-beta-hydroxysteroid dehydrogenase deficiency history and symptoms: Difference between revisions
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17-beta-hydroxysteroid dehydrogenase deficiency-3 is clinically characterized by either [[ambiguous]] [[external]] [[genitalia]] or complete female [[external]] [[genitalia]] at birth; As a consequence of impaired [[male]] [[sexual differentiation]] in 46XY individuals. | 17-beta-hydroxysteroid dehydrogenase deficiency-3 is clinically characterized by either [[ambiguous]] [[external]] [[genitalia]] or complete female [[external]] [[genitalia]] at birth; As a consequence of impaired [[male]] [[sexual differentiation]] in 46XY individuals. | ||
==History and Symptoms== | ==History and Symptoms== | ||
*17-beta-hydroxysteroid dehydrogenase deficiency-3 is clinically characterized by either [[ambiguous]] [[external]] [[genitalia]] or complete female [[external]] [[genitalia]] at birth | *17-beta-hydroxysteroid dehydrogenase deficiency-3 is clinically characterized by either [[ambiguous]] [[external]] [[genitalia]] or complete female [[external]] [[genitalia]] at birth, as a consequence of impaired [[male]] [[sexual differentiation]] in 46XY individuals. | ||
*Further investigations on ambiguous genitalia will eventually lead to findings of [[intersexuality]]. | *Further investigations on ambiguous genitalia will eventually lead to findings of [[intersexuality]]. | ||
*Severely impaired [[virilization]] (often complete absence of male sexual differentiation) can lead to development of female [[external genitalia]]. | *Severely impaired [[virilization]] (often complete absence of male sexual differentiation) can lead to development of female [[external genitalia]]. | ||
*These females are often discovered when there is absence of [[menarche]] (first menstruation) and when they begin to virilize during puberty (slowly become more like a man; deepening of the voice, [[acne]], male [[musculature]] etc). | *These females are often discovered when there is absence of [[menarche]] (first menstruation) and when they begin to virilize during puberty (slowly become more like a man; deepening of the voice, [[acne]], male [[musculature]] etc). | ||
*At careful examination, testis can often be found in the inguinal canal.<ref name="pmid10599740">{{cite journal| author=Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S | display-authors=etal| title=17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. | journal=J Clin Endocrinol Metab | year= 1999 | volume= 84 | issue= 12 | pages= 4713-21 | pmid=10599740 | doi=10.1210/jcem.84.12.6174 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10599740 }} </ref> | *At careful examination, testis can often be found in the inguinal canal.<ref name="pmid10599740">{{cite journal| author=Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S | display-authors=etal| title=17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. | journal=J Clin Endocrinol Metab | year= 1999 | volume= 84 | issue= 12 | pages= 4713-21 | pmid=10599740 | doi=10.1210/jcem.84.12.6174 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10599740 }} </ref> | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 20:30, 4 July 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-3 is clinically characterized by either ambiguous external genitalia or complete female external genitalia at birth; As a consequence of impaired male sexual differentiation in 46XY individuals.
History and Symptoms
- 17-beta-hydroxysteroid dehydrogenase deficiency-3 is clinically characterized by either ambiguous external genitalia or complete female external genitalia at birth, as a consequence of impaired male sexual differentiation in 46XY individuals.
- Further investigations on ambiguous genitalia will eventually lead to findings of intersexuality.
- Severely impaired virilization (often complete absence of male sexual differentiation) can lead to development of female external genitalia.
- These females are often discovered when there is absence of menarche (first menstruation) and when they begin to virilize during puberty (slowly become more like a man; deepening of the voice, acne, male musculature etc).
- At careful examination, testis can often be found in the inguinal canal.[1]
References
- ↑ Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S; et al. (1999). "17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations". J Clin Endocrinol Metab. 84 (12): 4713–21. doi:10.1210/jcem.84.12.6174. PMID 10599740.