46,XY ovotesticular difference of sex development
Synonyms: 46,XY ovotesticular DSD | 46,XY ovotesticular disorder of sex development
46,XY ovotesticular disorder of sex development is a rare genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or more frequently by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46 XY karyotype. External genitalia are usually ambiguous but can range from normal male to normal female and if a uterus and/or fallopian tubes are present they are generally hypoplastic. Cryptorchidism hypospadias infertility and increased risk of gonadal tumours are frequently associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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