Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Department of Gynecology and Obstetrics, Luohu Hospital, Shenzhen, People's Republic of China.
Fertil Steril. 2021 Aug;116(2):558-565. doi: 10.1016/j.fertnstert.2021.02.033. Epub 2021 Mar 19.
To reveal the proportion of concomitant extragenital malformations in a large cohort of Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Retrospective study.
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 müllerian duct aplasia, unilateral renal aplasia/ectopic kidney, and cervicothoracic 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.
揭示中国大样本 Mayer-Rokitansky-Küster-Hauser（MRKH）综合征患者伴发外生殖器畸形的比例。
回顾性研究。
中国 11 家三级教学医院。
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 1055 例中国汉族 MRKH 综合征患者。
核型分析、激素谱分析、盆腔超声、脊柱 X 线片、泌尿科超声以及中国女性生殖道畸形登记平台（https://ecrf.linklab.com/）。
患者的人口统计学和临床特征、伴发畸形和家族史。
1055 例中国汉族患者中，69.6%为Ⅰ型 MRKH 综合征，30.4%为Ⅱ型 MRKH 综合征。在Ⅱ型患者中，12.6%存在苗勒管发育不全、单侧肾发育不全/异位肾和颈胸体节发育不良。骨骼畸形是研究中最常见的伴发外生殖器畸形（22.0%，232/1055），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%）。肾脏畸形是第二常见的伴发外生殖器畸形（9.7%，102/1055），其中单侧肾发育不全和异位肾是最常见的肾脏畸形（分别为 48.0%和 22.5%）。
与欧洲患者相比，中国 MRKH 综合征患者中Ⅱ型疾病较为少见。在本队列中，骨骼畸形比肾脏畸形更常见。
