She Never Had a Period: A Case of Mayer-Rokitansky-Küster-Hauser Syndrome

Primary amenorrhea is a common concern in adolescent females and can place significant emotional pressure on both the patient and her parents. Although often attributed to benign causes, it may reflect underlying congenital anomalies even in the presence of normal pubertal development. We report the case of a 15-year-old girl of Middle Eastern descent who presented with absence of menarche. She reported normal pubertal development and denied disordered eating or excessive exercise. Hormonal evaluation demonstrated follicle-stimulating hormone and estrogen levels within normal limits. Pelvic magnetic resonance imaging revealed non-visualization of the uterus with normal-appearing ovaries, findings later confirmed by pelvic ultrasonography. Brain magnetic resonance imaging demonstrated an unremarkable pituitary gland. These findings led to the diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome. This case underscores the importance of structural imaging in the evaluation of primary amenorrhea, even when hormonal studies and pubertal development are normal.