Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital agenesis or hypoplasia of the uterus and upper vagina in phenotypic females with normal secondary sexual characteristics and a 46,XX karyotype. Atypical MRKH syndrome, or MRKH type II, is associated with extragenital anomalies, particularly renal abnormalities. Its diagnosis may be delayed when overshadowed by complex medical comorbidities. Case: A 19-year-old phenotypic female with CAKUT, complicated by right duplex kidney and end-stage renal failure on continuous ambulatory peritoneal dialysis, was admitted in September 2025 for peritonitis. Further history revealed primary amenorrhea. Physical examination demonstrated preserved pubertal development with Tanner stage III pubic hair and at least Tanner stage IV breast development. Hormonal profile was unremarkable, and chromosomal analysis showed a normal female karyotype (46,XX). Pelvic ultrasonography and computed tomography of the thorax, abdomen, and pelvis demonstrated uterine agenesis. In addition, bilateral oval-shaped heterogeneous soft tissue masses were identified within the paracolic gutters; ultrasonography showed multiple cysts within both masses, and each was associated with a gonadal vein, suggestive of bilateral ectopic gonadal structures on imaging. These findings were consistent with atypical MRKH syndrome type II in the context of underlying renal anomalies. Conclusion This case highlights the importance of evaluating primary amenorrhea even in patients with significant chronic illness. In phenotypic females with CAKUT, associated Müllerian anomalies should be actively considered. Atypical MRKH syndrome type II should be recognized early to enable accurate diagnosis, multidisciplinary follow-up, and appropriate reproductive and psychosocial counseling.
Female ; Cakut ; Mullerian aplasia ; Amenorrhea ; Urinary Tract ; Kidney