ESPE Abstracts

Introduction: Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) is a congenital disorder characterized by agenesis or aplasia of the uterus and upper portion of the vagina in females with a normal karyotype (46,XX). Its incidence is approximately 1 in 4,000 to 5,000 live female births. The etiology of MRKH syndrome is highly complex and remains unclear, although genetics is believed to play a significant role in its pathogenesis.

Case report: A 14-year-old girl presents with a complaint of abdominal pain that has been ongoing for the past month. The pain is continuous and subsides with the use of analgesic medication. She also reports a lump in the lower right abdomen. She has not yet experienced menstruation. The patient developed secondary sexual characteristics, including breast development and pubic hair at the same time as her peers. Tanner stage M3P3. Pelvic and abdominal ultrasound was performed, which revealed hematometrocolpos predominantly in the vagina, grade I-II hydronephrosis in both kidneys with a duplex collecting system in the right kidney. Abdominal CT scan showed a hypodense mass in the uterine cavity and bilateral adnexa, hematometra and hematosalpinges, a double uterine cavity structure with septa (suggestive of didelphys uterus), vaginal agenesis, bilateral pelvocaliectasis with a double collecting system in the renal pelvis and right ureter, hepatosplenomegaly, ascites. Hormonal assessment shows normal range of LH, FSH and estradiol. The patient was given symptomatic pain management therapy and underwent a double approach vaginoplasty.

Discussion: In cases of MRKH, patients typically present with primary amenorrhea. There are two types of MRKH: type 1, characterized by the absence of the proximal two-thirds of the vagina and uterus, and type 2, which is accompanied by anomalies in other organs such as the heart, kidneys, and skeletal system. We present a patient that almost match with MRKH, type 2. There are: vaginal agenesis and didelphys uterus was found along with renal and skeletal abnormalities. This is a rare case and raises a question: If the patient has MRKH type 2, why is she experiencing menstruation despite having an abnormal uterus? In the literature search, no similar cases of MRKH type 2 like our patient. Mutations in WNT4 were detected in patients with Müllerian aplasia and virilization/hyperandrogenism. Currently, we are investigating the WTF4 gene, which may play a role in this phenomenon. Right now the patient is in recovery after the surgery and waiting for the next follow-up appointment at the clinic.