Abstract
BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital disorder of yet unknown etiology, characterized by agenesis/hypoplasia of the müllerian duct system. The occurrence of ovarian cancer (OC) in MRKHS is rare, with <20 cases reported to date. CASE: A woman affected with MRKHS, developed an abdominal mass at the age of 33 years. Surgical examination revealed a blind vagina, small rudimentary uterus, two fully developed tubes and large bilateral ovarian tumors. The histological diagnosis was a low-grade serous carcinoma (LGSOC) of both ovaries, staged IIB. The patient showed a normal female karyotype and resulted negative at the BRCA1/2 genetic testing. CONCLUSION: This is the first report of a LGSOC in a patient with MRKHS. Although the identification of familial cases with both MRKHS and OC raised the hypothesis of a common genetic origin, further data and reports of additional cases are needed in order to assess a possible association of the two conditions.