Type 2 Variant of Mayer-RokitanskyKuster-Hauser Syndrome: A Case Report

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is an autosomal dominant condition that may co-occur with cardiac, renal, and skeletal abnormalities. It affects females causing utero-vaginal agenesis. Radiological assessment tools such as ultrasound and Magnetic Resonance Imaging (MRI) can be utilised for the confirmation of MRKH syndrome and for planning further management. Management of MRKH syndrome includes both non-surgical and surgical approaches, depending on the clinical presentation. The current report presents a case of a 21-year-old female who presented with a complaint of primary amenorrhoea and dyspareunia. Examination of the genitalia revealed normal external urethral meatus, labia majora and minora, and pubic hair development. Speculum examination confirmed the lack of a vaginal canal. Radiological findings were suggestive of uterine agenesis. Genetic analysis showed a 46,XX karyotype, thereby ruling out the chromosomal abnormalities. Based on the above findings and clinical evaluations, a final diagnosis of MRKH syndrome was confirmed. The patient declined surgical interventions at present and was managed non-surgically. In MRKH syndrome patients, counselling is crucial attributed to the associated physical abnormalities, related queries and mental stress.