Clinical,pathologic, and genetic findings in a case of 46, XY pure gonadal dysgenesis (Swyer's syndrome): I. Dysgerminoma and gonadoblastoma |
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Authors: | Anthony P Amarose Alkaterini A Kyriazis Elizabeth Dorus |
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Institution: | 1. Department of Obstetrics and Gynecology, University of Chicago Chicago, Illinois, USA;2. Department of Medicine, University of Chicago Chicago, Illinois, USA |
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Abstract: | Cytogenetic, pathologic, and clinical studies were conducted on a phenotypically female patient with primary amenorrhea and infertility. Analysis of blood cultures with routine and Giemsa-banded preparations indicated that the chromosomal complement of the patient was 46,XY. Buccal and peripheral blood smears prepared for fluorescent analyses confirmed the presence of a single F-body (Y chromosome). Pathologic examination of tissues removed at total hysterectomy and bilateral salpingo-oophorectomy revealed a gonadoblastoma of the right gonad, dysgerminoma of the left gonad, and an infantile hypoplastic uterus. The data were consistent with a diagnosis of 46,XY pure gonadal dysgenesis (Swyer's syndrome). |
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Keywords: | Reprint requests: Dr Anthony P Amarose Department of Obstetrics and Gynecology University of Chicago 5814 S Maryland Ave Chicago Illinois 60637 |
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