Abstract:Background: To present the clinical and genetic features of a male ambiguity due to 17beta-hydroxysteroid dehydrogenase 3 (17B-HSD3) deficiency. Case presentation: The proposita was an 11-year-old girl and the first child of a consanguineous family. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. At age 10, she was referred to our clinic for more evaluation. In pelvic sonography, ute… Show more
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