Type II Mayer–Rokitansky–Küster–Hauser Syndrome with Renal Anomaly: A Case Report and Review of Diagnostic and Psychosocial Challenges

Abstract Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by the congenital absence or hypoplasia of the uterus and the upper two-thirds of the vagina in 46, XX females, who exhibit normal secondary sexual characteristics. Type II MRKH syndrome includes associated anomalies, most commonly renal malformations. We report a 21-year-old student with primary amenorrhea and a blind vaginal pouch. Imaging and diagnostic laparoscopy confirmed the presence of a rudimentary uterus, a blind vaginal pouch, and a right pelvic kidney. The karyotype was 46, XX, and the hormonal profile was normal. Comprehensive management included reproductive counseling, options for vaginal reconstruction, and psychological support. We discussed the differential diagnosis, highlighted the psychosocial burden of MRKH syndrome and the need for multidisciplinary care. Increased clinician awareness and integrated services are essential for early detection and holistic management.