Persistent Müllerian Duct Symdrome: a rare anomaly that must be known

Abstract

Introduction: Mullerian duct persistence syndrome is a rare disorder of sexual differentiation with less than 300 published cases, which is characterized by the presence in the affected person of both male and female reproductive systems. Is a male with a phenotypically male XY karyotype in whom Muller’s duct (uterus, tubes, upper 2/3 of the vagina) did not regress. Clinical case: A 14-month-old male patient admitted to the Hospital of Specialties of Social Security for a diagnostic laparoscopy because of a bilateral cryptorchidism with non-palpable testicles and normal penis. In the laparoscopy, tubal, uterus and upper 2/3 of the vagina were identiied. In addition, a biopsy of both gonads was taken, conirming the presence of normal testicular tissue for age. With these data, he was scheduled for bilateral orchidopexy with hysterectomy, colpectomy, and bilateral salpingectomy. He is controlled in the outpatient clinics of endocrinology and surgery with normal evolution. Conclusions: The syndrome of persistence of Mullerian ducts is very rare, it should be suspected in men with bilateral cryptorchidism with non-palpable testicles and normal penis. The initial approach should be diagnostic laparoscopy with biopsy of both gonads and then in the second intervention and with the pathology report, proceed to bilateral orchidopexy plus the removal of the muller duct elements.