Background: Ovotesticular Difference of Sex Development (OT DSD) is a rare condition characterized by histologic demonstration of ovarian and testicular tissue in the same individual. Descriptions in literature usually do not include long term follow-up data.
Objectives: The aim of this study is to describe clinical, biochemical and histological findings, as well as long term outcomes (including onset and progression of puberty) in patients with OT DSD.
Results: In a retrospective study of 31 patients, findings include predominantly male gender assignment at the time of referral (54.8%) and subsequent female gender of rearing (54.8%). The most frequent karyotype was 46,XX (58.1%). Ovotestis was the most frequent gonad (48.4%) Puberty could be evaluated in 20 patients, being spontaneous in 12 of them. Four patients with partial gonadectomy in infancy were able to enter female puberty spontaneously.
Conclusion: It was observed that patients who preserved gonadal tissues were able to enter puberty spontaneously.
Keywords: Atypical genitalia; Difference of sex development; Disorder of sex development; Ovotesticular; Ovotestis; True hermaphroditism.
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