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A Case of Late-Diagnosed Ovotesticular Disorder of Sex Development - Abstract

Maria Knoblich, Vanda Pratas Vital, Dinorah Cardoso, Fátima Alves, Filipe Catela Mota, Lurdes Lopes, Teresa Kay, Paolo Casella


We report acase of ovotesticular disorder of sex development (DSD) with ambiguous genitalia, 46XX presenting the clinical, laboratory, imaging and operative findings and highlighting the pertinent features of this case. Results of hormonal, genetic testing and histopathology findings are reviewed.Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally.Conservative gonadal surgery is the procedure of choice after the diagnosis of true hermaphroditism, if the risk of a gonadal malignancy is low. Continued follow-up is necessary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.

Keywords: disorder of sex development, ovotestis, true hermaphroditism, disorder of sex development, ambiguous genitalia


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