17-beta-hydroxysteroid dehydrogenase deficiency laboratory findings
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.
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