Clinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population.

Abstract

Objective: This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer- Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population.

Methods: This retrospective study analyzed the medical records of 96 patients with MRKH syndrome diagnosed and treated at a university hospital and tertiary referral center in southern Thailand between 2000 and 2022.

Results: The study included 96 patients with MRKH syndrome. The most common symptom was primary amenorrhea (88.5%), followed by difficulty or inability to engage in sexual intercourse (9.4%) and pelvic mass (2.1%). Notably, 80.3% of the patients did not have extragenital malformations and were diagnosed with MRKH type I (typical form), whereas 19.7% were categorized as MRKH type II (atypical form). Skeletal malformations were the most frequent extragenital anomalies and were present in 19.5% of patients, with scoliosis being the most common skeletal condition. Other extragenital malformations included renal (8.5%) and neurological (1.0%) abnormalities. Clinical vaginal examination revealed complete atresia in 21.8% and vaginal hypoplasia (median vaginal length, 3 cm) in 78.2% of the patients. Half of the patients did not receive treatment because they had not engaged in sexual intercourse. In this cohort, 41.7% of the patients had no difficulty performing sexual intercourse. Hence, self-dilation therapy or concomitant dilation was recommended. Only eight patients (8.3%) underwent surgical reconstruction of the vagina.

Conclusion: This study confirmed the complexity and heterogeneity of the phenotypic manifestations of MRKH, including the degree of vaginal atresia and types and rates of associated malformations.