Renal abnormalities in Mayer-Rokitanski-Kuster-Hauser syndrome

Mayer-Rokitanski-Kuster-Hauser (NER-KH) syndrome, is a rare disorder charac terized by the congenital absence of the uterus and vagina. The prevalence has been reported as one in 4000 - 5000 female births. Patients with MRKH s yndrome have a 46.XX karyotype and normal secondary sex characteristics. Th e external genitalia appear normal, but only a shallow vaginal pouch is pre sent. Ovarian function is normal. A 54-year-old woman came to our observation for the treatment of arterial h ypertension. Her history involved primary amenorrhea and sterility. She had undergone abdominal and pelvic sonography as a routine screening and they had shown the absence of the uterus, left renal agenesis and a contralatera l pelvic kidney. These findings were confirmed by urography and CT scan of the abdomen. Gynecologic examination showed a small vaginal pouch (2 cm). T hus, the diagnosis of NERKH syndrome with associated congenital anomalies o f the upper urinary tract was made for the first time in this lady at the a ge of 54 years. Associated congenital anomalies of the upper urinary tract are reported to occur in 30 - 40 % of all cases of MRKH syndrome. No specific figures are a vailable on what percentage of women with missing kidney might also have MR KH syndrome. However, in 40 - 50 % of patients with renal agenesis, an asso ciated genital anomaly has been found. In conclusion, this report is intend ed to remind our community of the existence of congenital renal abnormaliti es associated with gynecologic abnormalities, a field of nephrology usually amply neglected.