DOI: https://doi.org/10.36347/sasjm.2026.v12i09.026

Pages: 966-970

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a rare congenital disorder characterized by agenesis of the uterus and upper two-thirds of the vagina in 46, XX women with normal secondary sexual characteristics. Accurate classification of MRKH subtypes and identification of associated anomalies are essential for appropriate management. This study aimed to illustrate the clinical and MRI features of MRKH syndrome through three cases with different presentations. We retrospectively reviewed the clinical and MRI findings of three young adult females (aged 20–21 years) who presented with primary amenorrhea and normal external genitalia. All patients underwent pelvic ultrasound, followed by pelvic MRI for definitive diagnosis and evaluation of associated anomalies. In Case 1, MRI confirmed complete agenesis of the uterus and upper vagina with normal bilateral ovaries, consistent with typical MRKH (Type I). Case 2 demonstrated uterine agenesis with a left ectopic pelvic kidney and normal ovaries, consistent with atypical MRKH syndrome (type II). Case 3 revealed complete uterine and upper vaginal agenesis. No skeletal anomalies were observed. All patients had normal secondary sexual characteristics. These three cases highlight the clinical and radiological spectrum of MRKH syndrome and the central role of MRI in accurately characterizing Müllerian structures and their associated anomalies. Early diagnosis and clear classification are crucial for guiding multidisciplinary management and for patient counseling.