Disorders of sexual development represent a pathologic and clinical challenge. Many different clinical syndromes exist, and several classifications have been proposed in relation to different risks for malignant degeneration. The morphology, cytogenetics, and immunophenotype of a monolateral ovotestis in a 3-month-old individual with ambiguous genitalia and right inguinal mass are reported. The inguinal mass consisted of a tiny female genital tract with a hermaphroditic gonad with focal placental-like alkaline phosphatase-stained gonocytes; chromosome analysis disclosed a mosaic constitution: 46,XderY/45,X with a rearranged Y chromosome. A sharp morphologic distinction between true hermaphroditism and mixed gonadal dysgenesis probably does not exist, and cytogenetic characterization is mandatory. The presence of placental-like alkaline phosphatase-stained gonocytes indicates a high risk of malignant transformation, and justifies the surgical removal of the dysgenetic gonad. Fertility is unlikely.

Zannoni, G., Vellone, V., Cordisco, E., Sangiorgi, E., Grimaldi, M., Neri, C., Nanni, L., Neri, G., Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia, <<INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY>>, 2010; 29 (1): 33-38. [doi:10.1097/PGP.0b013e3181b52e75] [http://hdl.handle.net/10807/32204]

Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia

Sangiorgi, Eugenio;
2010

Abstract

Disorders of sexual development represent a pathologic and clinical challenge. Many different clinical syndromes exist, and several classifications have been proposed in relation to different risks for malignant degeneration. The morphology, cytogenetics, and immunophenotype of a monolateral ovotestis in a 3-month-old individual with ambiguous genitalia and right inguinal mass are reported. The inguinal mass consisted of a tiny female genital tract with a hermaphroditic gonad with focal placental-like alkaline phosphatase-stained gonocytes; chromosome analysis disclosed a mosaic constitution: 46,XderY/45,X with a rearranged Y chromosome. A sharp morphologic distinction between true hermaphroditism and mixed gonadal dysgenesis probably does not exist, and cytogenetic characterization is mandatory. The presence of placental-like alkaline phosphatase-stained gonocytes indicates a high risk of malignant transformation, and justifies the surgical removal of the dysgenetic gonad. Fertility is unlikely.
Inglese
Zannoni, G., Vellone, V., Cordisco, E., Sangiorgi, E., Grimaldi, M., Neri, C., Nanni, L., Neri, G., Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia, <<INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY>>, 2010; 29 (1): 33-38. [doi:10.1097/PGP.0b013e3181b52e75] [http://hdl.handle.net/10807/32204]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/32204
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