Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome

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• 作者：Karina Kapczuk ; ^{karkap@umed.poznan.pl} ; Kinga Iwaniec ; Zbigniew Friebe ; Witold Kędzia
• 关键词：Rokitansky syndrome ; MRKH syndrome ; Associated malformations ; Karyotype abnormalities ; Chromosomal aberrations
• 刊名：European Journal of Obstetrics & Gynecology and Reproductive Biology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：207
• 期：Complete
• 页码：45-49
• 全文大小：281 K
• 卷排序：207

文摘

To describe congenital malformations and coexisting disorders occurring in 125 Polish women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). The syndrome is defined as uterovaginal aplasia in female with normal 46,XX karyotype.Study designA retrospective analysis of the clinical data of MRKHS patients diagnosed or treated at the Gynecology and Obstetrics Clinical Hospital of Poznan University of Medical Sciences between 2010 and 2015.ResultsSixty-eight patients (54,4%) were found to have one or more coexisting anomalies. Thirty-eight patients (55,9% of cases with concomitant malformations, 30,4% of the entire study group) had coexisting anomalies of at least two organ systems. The most frequent extragenital malformations were skeletal anomalies found in 40 patients (32%) and renal anomalies found in 36 patients (28,8%). Fifty-seven patients (45,6%) were diagnosed with typical form (type 1) and 16 (12,8%) with the atypical form (type 2) of MRKHS. In the other 52 patients (41,6%) we diagnosed MURCS association. Five of our patients (4%) had karyotype abnormalities.ConclusionsOur study confirms complexity and clinical heterogeneity of MRKHS. Concomitant congenital malformations are present in about half of MRKHS women. A significant proportion of patients have coexisting anomalies of at least two organ systems. The most common coexisting findings are musculoskeletal and renal abnormalities. Chromosomal aberrations may be present in patients with either typical or atypical form of MRKHS.