[Mixed gonadal dysgenesis. Report of 11 cases].
Eleven cases of Mixed Gonadal Dysgenesis are reported. The disease is characterized by gonadal asymmetry, as well as retained Mullerian duct structures. These individuals exhibit varying degrees of masculinization of the external genitalia, the spectrum of phenotypic expression extending from the normal male to the normal female. 45,/46, XY is the typical karyotype. The etiology, the role of H-Y antigen, pathogenesis and management are discussed. The risk of neoplastic transformation in gonads is a significant threat and must be considered at all the stages of management.
Liu
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D000293:Adolescent; D002471:Cell Transformation, Neoplastic; D002648:Child; D002675:Child, Preschool; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D006182:H-Y Antigen / Q000032:analysis; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male
D006182:H-Y Antigen