HEARING-LOSS AND THE MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME

The hearing of 51 female patients with the Mayer-Rokitansky-Kuster-Hauser syndrome was examined using otoscopy and standard audiometry. A unilateral or bilateral hearing loss of more than 15 dB Fletcher index was found in 13 of 51 (25.5%). Four of these 13 patients had a hearing loss of less than 20 dB in the worst ear. The remainder had a hearing loss of at least 30 dB in the worst ear. Five of the 13 patients had pure conductive hearing loss; in four of these five, a congenital origin was accepted. Two of the 13 had mixed hearing loss that was a residual symptom from previous otitis media; six had sensorineural hearing loss. A congenital cause was found in one of these six, based on the fact that she had been deaf and dumb since birth. In one other patient, noise-related deafness was likely (i.e., an acquired cause). In the other four cases in this group, the cause was unknown. The results of this study show that hearing loss is a characteristic associated with the Mayer-Rokitansky-Kuster-Hauser syndrome

MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME - DISTINCTION BETWEEN 2 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-Kuster-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 (1 5%), 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

SPINAL ABNORMALITIES AND THE ATYPICAL FORM OF THE MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME

In 96 patients with congenital absence of the uterus and upper vagina, the Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, it proved possible to distinguish between the typical and the atypical form using laparoscopy. The typical form was characterized by symmetrical nonfunctioning muscular buds (the Mullerian duct remnants) and normal fallopian tubes, and the atypical form by aplasia of one or both buds, one bud smaller than the contralateral one, with or without dysplasia of one or both fallopian tubes. The atypical form was found in 52 patients (54.2%). Radiographs of the spine showed that congenital spinal abnormalities, especially the Klippel-Feil (KF) syndrome, were seen in 14 of the 52 patients with the atypical form only. Renal agenesis or ectopia together with the MRKH and KF syndromes, known as the MURCS association (MU: Mullerian duct aplasia; R: renal agenesis/ectopia; CS: cervical somite dysplasia), was diagnosed in 10/52 patients in the atypical group. From our results we conclude that additional cervical spine films in patients with the MRKH syndrome are indicated only in the atypical form the syndrome. In those cases where the MRKH syndrome is associated with the KF syndrome, the MURCS association should be considered