Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
17-beta-hydroxysteroid dehydrogenase deficiency laboratory findings
Introduction
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. 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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]