Infantile XX male: A case report |
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| Authors: | Atsushi Miyashita Koichiro Isurugi Hiroko Aoki |
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| Institution: | Department of Urology, Ibaraki Central Hospital, Tomobe, Ibaraki and Department of Urology, University of Tokyo, School of Medicine, Bunkyo-ku, Tokyo, Japan;**Dept. of Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Yushima, Tokyo 113 |
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| Abstract: | A case of infantile XX male syndrome with bilateral scrotal testes and penoscrotal hypospadias is presented. No evidence of XX/XY mosaicism or Y chromatin was obtained in preparations from cultures of the peripheral blood, skin fibroblast, or other tissues. Although true hermaphroditism was suspected, exploration of the bilateral gonadal structures failed to detect the presence of ovarian structures, either grossly or microscopically. Furthermore, exploratory laparotomy revealed no Mullerian structures. The difficulty of early diagnosis of XX males in infancy is emphasized. |
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