Six-year diagnostic delay in a married woman with Mayer–Rokitansky–Küster–Hauser syndrome: a case report

Background Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome type 1 is typically diagnosed during adolescence, with primary amenorrhea being the most common presenting symptom in young women with otherwise normal secondary sexual characteristics and external genitalia. Patients with MRKH syndrome lack a uterus and the upper two-thirds of the vagina. The syndrome has a prevalence of approximately 1 in 4,500 live female births, making it a rare condition. Case presentation We report the case of a 27-year-old, Syrian, Arab married woman who presented with primary amenorrhea and a desire to conceive. Despite multiple clinical evaluations over several years, she remained undiagnosed until her presentation to our clinic. The diagnosis of MRKH syndrome was confirmed through pelvic ultrasound, magnetic resonance imaging (MRI), and diagnostic laparoscopy. Conclusions This case is notable not only for the rarity of MRKH syndrome, but also for the 6-year delay in diagnosis despite ongoing symptoms. It underscores the critical need for early and thorough gynecologic evaluation in adolescents and young women presenting with primary amenorrhea, even in the presence of normal secondary sexual characteristics. The case also highlights how cultural and religious factors may influence reproductive decision-making and limit available fertility options in patients with MRKH.