46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy

Abstract

Ovotesticular disorders of sex development (DSD) are characterized by the coexistence of ovarian and testicular tissue. Although some individuals carry a Y chromosome, explaining testicular development, 46,XX is the commonest karyotype, ranging from 65% to 90% of patients with ovotesticular DSD.1 In about one-third of 46,XX ovotesticular DSD cases, the SRY gene is present, owing to an abnormal translocation to the X chromosome or to an autosome. In the remaining cases, SRY is absent; however, the mechanism responsible for the development of testicular tissue is poorly understood.