Two cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with situs inversus totalis: coincidence or co-existence?

ABSTRACT

Congenital absence of uterus and vagina, the Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS), results from defective müllerian duct development during female embryogenesis; it is the second most common cause of primary amenorrhea. Atypical forms of MRKHS (type B) represent a heterogeneous group of disorders with associated anomalies of other organ systems which frequently includes the renal and skeletal systems and several individually occurring malformations. We report two cases with MRKHS in which we diagnosed situs inversus totalis incidentally during radiologic examinations. Abdominal situs inversus describes the mirror-image arrangement of the intra-abdominal organs in the abdominal cavity and it is characterized by the presence of multiple congenital anomalies. In this report we attempt to question whether the association between MRKHS and situs inversus is a rare feature of the müllerian dysgenetic spectrum or whether it is the result of random association.