Endocrine Abstracts

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital cause of primary amenorrhea, characterized by aplasia of the vagina with or without concurrent uterine and/or cervical aplasia. MRKH syndrome has a heavy psychological impact, and requires multidisciplinary management.

Case Report: A 17-year-old female patient presented for exploration of a primary amenorrhea. Her medical history was significant for recurrent urinary tract infections. Her physical exam was notable for Tanner stage IV pubic hair and Tanner stage V breast development, normal external female genitalia. The hormonal profile was normal with estradiol at 137 pg/ml and the karyotype was 46, XX. A pelvic magnetic resonance imaging revealed an aplastic, blind-ending vaginal canal without an identifiable cervix or uterus. Bilateral ovaries were visualized with normal morphology. The rectum, urinary bladder, kidneys were normal in appearance.

Discussion and Conclusion: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by a physiological development of the secondary sexual characters and by a normal female karyotype 46 XX, but with a congenital aplasia of the uterus and of two/third superior parts of upper vagina. MRKH syndrome is divided into two subtypes: type I and the less-frequent type II (MURCS). 2D/3D ultrasound (US) remains the first-line examination for diagnosing this syndrome, but MRI is more sesitive and specific, and remains the gold standard for accurate diagnosis, with a view to optimal management. The etiology of MRKH, unfortunately, remains unclear. The majority of cases appear to be sporadic; however, rising accounts of familial cases with an autosomal dominant mode of inheritance complicated by an incomplete penetrance and variable expressivity are noted in the literature. In cases involving type II MURCS, disturbances during gastrulation can affect the migration and differentiation of the mesoderm, leading to defects involving the paraxial mesoderm (cervical vertebrae), intermediate mesoderm (urogenital structures), and lateral plate mesoderm (limb defects). Treatment for MRKH depends on your goals and symptoms. There are surgical and nonsurgical treatment options, including vaginoplasty, vaginal dilation and a uterine transplant requiring multidisciplinary management.