Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Ku euro ster-Hauser syndrome: a nationwide multicentric
Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Ku euro ster-Hauser syndrome: a nationwide multicentric
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1,055 名中国 Mayer-Rokitansky-Küster-Hauser 综合征患者的临床特征：一项全国性多中心研究。
DOI：
10.1016/j.fertnstert.2021.02.033
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发表时间：
2021-08-03
影响因子：
6.7
通讯作者：
Zhu, Lan
中科院分区：
文献类型：
--
作者：
Chen, Na;Pan, Hongxin;Zhu, Lan
目的：揭示大型中国Mayer-Ro-kitansky-Ku euroster-Hauser（MRKH）综合征患者队列中伴随生殖器外畸形的比例。研究设计：回顾性研究。地点：中国三级教学医院。患者：2015年1月至2020年1月，在中国11家三级教学医院诊断和治疗的1，055例中国汉族MRKH综合征女性。干预：核型分析、激素分析、盆腔超声检查、脊柱X线片、泌尿系统超声检查和中国女性生殖道畸形登记平台（https：//ecrf.linklab.com/）。主要结果测量：患者的人口统计学和临床特征、并发畸形和家族史。结果：在1,055例中国汉族MRKH患者中，69.6%为I型MRKH综合征，其余30.4%为II型MRKH综合征。在II型患者中，12.6%的患者有米勒管发育不全、单侧肾发育不全/异位肾和颈胸体节发育不良相关。骨骼畸形是研究中最常见的相关生殖器外畸形（22.0%，232/1，055），其中特发性脊柱侧凸和先天性椎体畸形是2种主要骨骼畸形（分别为80.6%和14.2%）。肾畸形是第二高的相关性生殖器外畸形（9.7%，102/1055），单侧肾发育不全和异位肾是最常见的肾畸形（分别为48.0%和22.5%）。在我们的队列中，颅骨畸形是比肾脏畸形更常见的生殖器外畸形。(C)2021年，美国生殖医学会（American Society for Reproductive Medicine）
Objective: To reveal the proportion of concomitant extragenital malformations in a large cohort of Chinese patients with Mayer-Ro-kitansky-Ku euro ster-Hauser (MRKH) syndrome.Study Design: Retrospective study.Setting: Tertiary teaching hospitals in China. Patient(s): A total of 1,055 Chinese Han women with MRKH syndrome diagnosed and treated at 11 Chinese tertiary teaching hospitals from January 2015 to January 2020.Intervention(s): Karyotype analysis, hormone profiling, pelvic ultrasonography, spinal roentgenograms, urologic ultrasonography, and Chinese female reproductive tract malformation registry platform (https://ecrf.linklab.com/).Main Outcome Measure(s): Patients' demographic and clinical characteristics, concurrent malformations, and family histories.Result(s): Of the 1,055 Chinese Han patients with MRKH, 69.6% had type I MRKH syndrome and the remaining 30.4% had type II MRKH syndrome. Among the type II patients, 12.6% had mu euro llerian duct aplasia, unilateral renal aplasia/ectopic kidney, and cervico-thoracic somite dysplasia association. Skeletal malformations were the most common associated extragenital malformations in the study (22.0%, 232/1,055), of which idiopathic scoliosis and congenital vertebral malformations were the 2 main skeletal malformations (80.6% and 14.2%, respectively). Renal malformations were the second-highest associated extragenital malformations (9.7%, 102/ 1,055), with unilateral renal agenesis and ectopic kidney being the most common renal malformations (48.0% and 22.5%, respectively).Conclusion(s): Type II disease was less common among Chinese patients with MRKH syndrome compared with European patients. Skeletal malformations were more common extragenital malformations than renal malformations in our cohort. (C) 2021 by American Society for Reproductive Medicine.