46,XY ovotesticular disorder of sex development

Orpha code: 325345OMIM code:

Definition

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.

Disease data
Classification

Disease

Synonyms
46,XY ovotesticular DSD
Jajnikowo-jądrowe ZRP z kariotypem 46,XY
ORPHA code
325345
OMIM code
-
ICD10 code
Q56.0
ICD11 code
LD2A.0

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl