Mayer-Rokitansky-Küster-Hauser Syndrome: Where Does Gynaecological Pathology End and Renal Disease Begin? The Value of a Comprehensive View. Two Case Reports with Adult Onset Kidney Disease and A Review of the Literature.

Background. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital condition marked by agenesis or hypoplasia of the upper female reproductive tract. While it is typically recognized for its reproductive implications, renal anomalies - such as unilateral renal agenesis or ectopic kidneys - are also frequent but often underdiagnosed. Recent findings suggest shared embryological origins between the genital and urinary systems, supporting the need for a broader diagnostic and therapeutic perspective. Case Description. We describe two cases of women with MRKH syndrome diagnosed in adolescence, in whom renal anomalies were detected only in adulthood. Both patients developed hypertension and progressive renal dysfunction in their 30s, revealing previously unrecognized congenital malformations: one with renal dysplasia, the other with unilateral agenesis and compensatory hypertrophy. These cases emphasize how renal involvement in MRKH can remain silent for years and highlight the importance of early and continuous uro-nephrological surveillance. Conclusion. MRKH syndrome should be considered a systemic disorder involving both reproductive and renal systems. The traditional classification into Type I and Type II may not reflect the full clinical spectrum. A multidisciplinary approach - including gynecology, urology, and nephrology - is essential for timely detection and management of renal complications. Regular follow-up, even in asymptomatic patients, can prevent or delay chronic kidney disease. Greater awareness of renal risks in MRKH is vital to improving long-term outcomes and ensuring truly comprehensive care.