An Interesting Case of Symptomatic MRKH Syndrome with Functional Mullerian Remnant and Endometrioma

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a congenital disorder characterized by the aplasia of the uterus and the upper two-thirds of the vagina in women who exhibit normal secondary sexual characteristics and have a normal 46,XX karyotype. The condition has an estimated prevalence of approximately 1 in every 4,500 live female births. Notably, active Müllerian duct remnants are found in about 39% of patients with MRKH syndrome. Pelvic pain in such patients is often attributed to the accumulation of endometrial fluid in an obstructed functional Müllerian remnant or the presence of endometriosis. We present the case of a 29-year-old married woman who presented with primary amenorrhea and cyclical lower abdominal pain persisting for the past six months. On abdominal examination, there was marked tenderness in the left iliac fossa. Per vaginal examination revealed a blind-ending vaginal pouch. Ultrasonography showed a normal-sized uterus with a left ovarian endometrioma measuring 3.5 × 2.2 cm. These findings were further supported by contrast-enhanced CT (CECT). Vaginoscopy confirmed the presence of a blind vagina. However, diagnostic laparoscopy revealed the absence of the uterus, contradicting the ultrasound findings. A left ovarian endometrioma measuring 6 × 5 cm was noted, along with a left-sided Müllerian remnant measuring 4 × 3 cm that appeared to contain functional endometrial tissue. The patient underwent laparoscopic left ovarian cystectomy along with excision of the left Müllerian remnant and left fallopian tube. Postoperatively, she was treated with leuprolide acetate (3.75 mg IM) administered monthly for three doses to suppress any residual endometrial activity and prevent recurrence.