Diagnosis of Mayer–Rokitansky–Küster–Hauser Syndrome: A Case Report

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital
malformation characterized by agenesis or hypoplasia of the uterus and the upper third of the vagina, in patients with a forty-six, XX karyotype and normal secondary sexual development. We present the case of a 12-year-old female patient with primary amenorrhea and hypogastric pain. Imaging studies revealed hematometra secondary to distal vaginal obstruction. Magnetic resonance imaging and laparoscopy confirmed the presence of a functioning hypoplastic uterus, absence of the cervix,
and a short vaginal canal, findings consistent with type I MRKH. Emergency surgical drainage was performed. Comprehensive management of this syndrome requires a multidisciplinary approach for diagnosis, surgical intervention, and psychological
support, due to its reproductive, emotional, and social impact.