Mayer-Rokitansky-Küster-Hauser Syndrome: A Case Series

Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH syndrome), also referred to as müllerian dysgenesis, is a rare congenital disease that causes utero-vaginal hypoplasia or aplasia with normal secondary sexual characteristics and a karyotype 46, XX. This retrospective study included five MRKH syndrome patients. The mean age at presentation was 20.2 years. All five patients (100%) reported with nonattainment of menarche; among them, two patients (40%) experienced dyspareunia, while one patient (20%) reported cyclic abdominal pain. Clinical assessment and diagnostic investigations confirmed the presence of MRKH syndrome. The patients and their families were counselled regarding anatomical abnormalities and available fertility options. Vaginoplasty, aimed at creating a neo-vagina, was a key component in the management approach. The neo-vagina was successfully constructed in four out of five patients (80%), whereas in one patient (20%), the procedure was discontinued due to a rectal injury. One patient (20%) also underwent additional surgery involving removal of the left-sided rudimentary uterine horn and preservation of the functional endometrium on the right side. This preserved endometrium was anastomosed with the neo-vagina to facilitate menstrual outflow, potentially maintaining the patient’s reproductive capability.