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Obstet Gynecol. 1984 Sep;64(3 Suppl):68S-72S.

Complete development of secondary sex characteristics in a case of 46,XY pure gonadal dysgenesis.


Although pubertal development is unusual in 46,XY gonadal dysgenesis, it may occur in association with gonadal tumors. The authors report a case of 46,XY gonadal dysgenesis in a 17-year-old girl remarkable for H-Y+ phenotype and bilateral gonadoblastomas accompanied by dysgerminomatous change and nearly complete female secondary sex development. Endocrinologic activity of the gonads was indicated by marked decrease in sex steroid production after gonadectomy. Occurrence of gonadal neoplasia in this case is consistent with the observation that neoplastic transformation is likely in H-Y+ cases of 46,XY gonadal dysgenesis.

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