Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review

Abstract

Background Mayer-Rokitansky Küster-Hauser syndrome MRKHS represents class I of congenital Müllerian anomaly, which resulted from interruption of embryonic development of the paramesonephric ducts in early pregnancy. It is characterized by uterine and proximal vaginal aplasia/hypoplasia associated with variable degree of cardiac, renal, and skeletal anomalies. We aimed to review and analyze clinically and radiologically MRKHS relying on three young sisters’ cases who presented with primary amenorrhea and were found to have features of MRKHS. Case presentation Three sisters aging 17, 20, and 25 years old presented with primary amenorrhea. Clinical workup was performed followed by ultrasound and MRI of the abdomen and pelvis, spine X-ray, audiogram, echocardiogram, hormonal study, and karyotyping. The three sisters had normal sex hormones and mature secondary sexual characteristic features. Additionally, cardiac valvular regurgitation and renal hypoplasia were recognized. Cytogenetic confirmed normal female 46 XX karyotype. MRI showed variable size and appearance of Müllerian remnant tissue of the uterus and proximal vagina. Conclusion MRKHS shows variable size and appearance of Müllerian remnant structures; however, it seems that the smaller the volume of remnant tissue the more severe associated anomalies. Associated valvular cardiac disease is documented, which was not reported before.

A Rare Case of Mullerian Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome)

“…The family was informed about the diagnosis and counselled regarding psychological and physical challenges and management options which included non-surgical and surgical. The non-surgical option is regular use of vaginal dilator to create or enlarge rudimentary vagina 10,11 . Family opted for non-surgical option as first line treatment.…”