Mayer-Rokitansky-Küster-Hauser syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings.

OBJECTIVE: The purpose of this study was to discriminate typical (type A) from atypical (type B) Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (congenital absence of vagina and uterus) and determine their association with renal anomalies and ovarian disease.

MATERIALS AND METHODS: The excretory urographic, sonographic, and laparoscopic findings in 91 patients with MRKH syndrome were compared retrospectively. Symmetric muscular buds and fallopian tubes were diagnostic of type A, and asymmetric muscular buds or abnormally developed fallopian tubes were diagnostic of type B.

RESULTS: On the basis of laparoscopic findings, type A was diagnosed in 40 patients (44%) and type B was diagnosed in 51 patients (56%). Renal anomalies were found in 34 (37%) of the 91 patients, all of whom had type B syndrome. Renal agenesis and a pelvic kidney were the most common findings in the upper part of the urinary tract. Ovarian abnormalities were seen in 14 patients (15%), all of whom had type B syndrome. Sonography did not allow discrimination between types A and B in patients with normal kidneys (17/51 = 33%), but it provided important information in patients with associated cyclic abdominal pain, in cases of diagnostic dilemma, and in patients with associated renal anomalies.

CONCLUSION: Discrimination between type A and type B of MRKH syndrome is important because associated renal and ovarian abnormalities occur only in type B. Laparoscopy is still needed to discriminate between these two forms. Sonography is useful for diagnosing cyclic abdominal pain and associated renal anomalies.