The Role of Imaging in Mayer-Rokitansky-Küster-Hauser Syndrome: A Report of Two Cases and Literature Review

Abstract

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare condition that results from the disturbance of embryonic paramesonephric (Mullerian) duct development giving rise to varying degrees of malformation of reproductive organs and in some cases structures outside of reproductive system such as renal and skeletal abnormalities. The authors describe two female patients with normal (46, XX) karyotype, normal external genitalia and well-developed secondary sexual characteristics who presented with primary amenorrhoea.