Prevalence, clinical profile, and associated anomalies with women with Mayer–Rokitansky–Küster–Hauser syndrome in a tertiary care center: A cross‐sectional study

Abstract Background Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital anomaly of the Müllerian ducts and represents the second most common cause of primary amenorrhea, accounting for 10%–15% of cases. Despite its significance, limited data exist regarding its clinical profile and associated anomalies in the Indian population. Objective This study aims to determine the prevalence of MRKH syndrome among women presenting with primary amenorrhea at a tertiary care center in South India and to describe their clinical profiles and associated anomalies using the Vagina Cervix Uterus Adnexa‐associated Malformation (VCUAM) classification system. Methods A retrospective study was conducted over 15 years (January 2008 to December 2022) including women diagnosed with MRKH syndrome based on inclusion criteria: primary amenorrhea, normal secondary sexual characteristics, 46‐XX karyotype, and normal serum follicle‐stimulating hormone levels. Data were extracted from medical records and analyzed using SPSS v25.0. Results Out of 340 women with primary amenorrhea, 181 (60%) were diagnosed with MRKH syndrome. The mean age at presentation was 21 years. The predominant complaint was non‐attainment of menarche (66.8%), with 16.5% reporting cyclical abdominal pain. Type 1 MRKH was most common (78.9%), followed by Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia (MURCS) association (16.5%). Renal anomalies (15.5%) were the most frequent extragenital malformations. All women had vaginal and cervical agenesis (V5bC2b). Uterine anomalies included bilateral aplasia (89.1%), unilateral aplasia (0.6%), and hypoplasia (10.5%). Conclusion MRKH syndrome is a significant cause of primary amenorrhea, with notable extragenital anomalies, especially renal. Systematic evaluation using the VCUAM classification enables comprehensive assessment, aiding in individualized and multidisciplinary care strategies.