Abstract
•Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is the leading cause of vaginal agenesis. •It is characterized by primary amenorrhea with typical adrenarche and telarche and may be associated with congenital urological and skeletal conditions that should be investigated. •Differential diagnoses include: vaginal obstructions (imperforate hymen, distal vaginal atresia, transverse vaginal septum), uterine obstructions (cervical atresia), and differences in sexual development (gonadal dysgenesis, complete androgen insensitivity and congenital adrenal hyperplasia due to CYP17 deficiency). •Laboratory tests (testosterone, follicle-stimulating hormone [FSH] and karyotype) and radiological tests (pelvic ultrasound and MRI) are necessary. •Vaginal dilation is the first line of treatment with high success rates.