Morphology and Immunophenotyping of a Monolateral Ovotestis in a 46,XderY/45,X Mosaic Individual With Ambiguous Genitalia

作者：Zannoni Gian Franco^*; Vellone Valerio Gaetano; Cordisco Emanuela Lucci; Sangiorgi Eugenio; Grimaldi Maria Eufemia; Neri Caterina; Nanni Lorenzo; Neri Giovanni

来源：International Journal of Gynecological Pathology, 2010, 29(1): 33-38.

DOI：10.1097/PGP.0b013e3181b52e75

• Disorders of sexual development
• Ovotestis
• Morphology
• Immunohistochemistry
• Citogenetics

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 dysgenctic gonad. Fertility is unlikely.

• 出版日期2010-1