Abstract
A 15-month-old boy was discovered to have internal female genitalia during an operation for bilateral inguinal hernia. The biopsies showed normal testicular tissue and the karyotyping result was 46XY, so the diagnosis of persistent mullerian duct syndrome (PMDS) was made. At the second operation, the uterine fundus and fallopian tubes were excised. Then, he underwent bilateral orchiopexy. We discuss a rare presentation of this disorder, its management, and genetic implications together with a review of the literature.
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Boleken, M.E., Kaya, M., Güran, S. et al. Persistent mullerian duct syndrome with transverse testicular ectopia . Int Urol Nephrol 39, 1173–1175 (2007). https://doi.org/10.1007/s11255-006-9163-9
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DOI: https://doi.org/10.1007/s11255-006-9163-9