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894 Management of müllerian malformations
  1. Nouha Bouayed and
  2. Balkiss Abdelmoula
  1. Medical University of Sfax, Genomics of Signalopathies at the service of Precision Medicine LR23ES07, Sfax, Tunisia


Introduction/Background Perturbations during the embryological formation, fusion or resorption of the Müllerian ducts lead to various types of congenital uterine malformations associated or not with other anomalies. This study assessed the management of the risk of cancer in female patients harboring congenital uterine abnormalities among females harboring reproduction failure or infertility.

Methodology We selected from genetic reports of our genetic counselling, patients for whom congenital uterine anomalies were recorded and genetic counselling was delivered.

Results This study recruited ten patients with congenital uterine abnormalities (3% of the population of infertile patients of our genetic counselling). Out of these patients, a bicornuate unicollis uterus was recorded in 50% of patients, a septate uterus with complete vaginal septum in one case (10%) and a segmental Müllerian agenesis with Mayer-Rokitansky-Küster-Hauser syndrome phenotype in four patients (40%). One of them had in association to unicornuate uterus and vaginal diaphragm at the superior third, a unilateral renal agenesis. Complete agenesis of the uterus was recorded in two patients. At the productive level, miscarriages and recurrent pregnancy losses with and without live birth were recorded in two patients, ectopic pregnancies were recorded in one patient and primary amenorrhea was recorded in two patients. The others presented a primary infertility and were candidate to ART techniques. Cytogenetic analysis of the ten patients showed a 46,XX formula. All of them received a genetic counselling and were informed about a minor risk of cancer.

Conclusion There is an evidence that clear cell adenocarcinomas of the ovary, endometrium, cervix, and vagina are associated with Müllerian duct abnormalities with/without renal malformations.

Disclosures None.

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