Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)

Abstract

BackgroundThe aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex – associated Malformation classification system (VCUAM).Methods290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy.ResultsClassification of female genital malformation according to the Vagina Cervix Uterus Adnex – associated Malformation classification system was possible in 284 women (97.9%). Complete atresia of Vagina (V5b) and bilateral atresia of Cervix (C2b) were found in 284 patients (100%). Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%). Adnexa: normal Adnexa were found in 248 women (87.3%). Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%), 84 women (29.6%) had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7%) could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8%) diagnosed in 133 of 284 women.ConclusionsComplete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities.

Mayer-Rokitansky-Küster-Hauser Syndrome In A Young Woman

“…Fat in the ischiorectal fossa (F) is seen lateral to the rectum. but normal uterus, as in our patient (2,9). In a two-center retrospective analysis, probably the largest, of 290 women who were categorized in accordance with the VCUAM classification (5), not a single case was found to have a normal uterus (5,9).…”

Septate uterus with complete vaginal agenesis: an undescribed Müllerian malformation

“…Oppelt et al reported a cohort of 284 women with MRKH syndrome, only 0.7 % of whom presented with a hypoplastic uterus. None of them had a normal-sized septate uterus [15].…”

Genetic aspects of vagina and the uterus aplasia: the history

“…Современные критерии синдрома МРКХ вклю-чают: аплазию матки и влагалища, первичную аме-норею, развитые по женскому типу вторичные поло-вые признаки, неизмененные яичники и женский кариотип 46ХХ (MIM 277000) [4][5][6]. Синдром МРКХ выявляется у 10% женщин с первичной аменореей [7].…”

“…Наиболее часто при аплазии влагалища и матки встречаются сопутствующие пороки развития верх-ней части мочевыделительной системы -примерно 29-40% всех пациенток с аплазией влагалища и мат-ки [4,11,12] и позвоночника -у 30-40% пациенток [13,14]. Аномалии развития почек включают одно-стороннюю аплазию, эктопическое расположение одной или обеих почек, подковообразную почку, ги-дронефроз и даже аплазию обеих почек [12,15].…”