17-beta-hydroxysteroid dehydrogenase deficiency laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
Increased serum androstenedione and decreased serum [[testosterone]]/[[androstenedione]] ratios after [[hCG]] [[stimulation]]. The definitive diagnosis can be made from [[Genetic testing]]. | |||
==Laboratory findings== | ==Laboratory findings== | ||
*Increased serum androstenedione and decreased serum [[testosterone]]/[[androstenedione]] ratios after [[hCG]] [[stimulation]]. | *Increased serum [[androstenedione]] and decreased serum [[testosterone]]/[[androstenedione]] ratios after [[hCG]] [[stimulation]]. However, low T/A ratios are not specific for 17βHSD3 deficiency, but are sometimes also found in patients with other defects in [[testosterone]] [[synthesis]] or [[Leydig cell]] [[hypoplasia]]. Therefore, T/A ratios should only be used when a hCG-stimulated response of serum testosterone or/and serum androstenedione is observed. | ||
*The definitive diagnosis can be made from [[Genetic testing]].<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> | *The definitive diagnosis can be made from [[Genetic testing]].<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== | ||
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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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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
Increased serum androstenedione and decreased serum testosterone/androstenedione ratios after hCG stimulation. The definitive diagnosis can be made from Genetic testing.
Laboratory findings
- Increased serum androstenedione and decreased serum testosterone/androstenedione ratios after hCG stimulation. However, low T/A ratios are not specific for 17βHSD3 deficiency, but are sometimes also found in patients with other defects in testosterone synthesis or Leydig cell hypoplasia. Therefore, T/A ratios should only be used when a hCG-stimulated response of serum testosterone or/and serum androstenedione is observed.
- The definitive diagnosis can be made from Genetic testing.[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.