摘要
目的 探讨青春期发育前起病的MRKH综合征的临床特点，以提高其早期诊断水平。方法 回顾分析2例9岁女童的临床资料，包括体格检查、性激素、染色体核型、盆腔超声与MRI及WES结果。结果 两例患儿均表现有乳房发育，性激素检测示正常水平，染色体核型分别为46,XX和46,XX,21pstk+，盆腔超声及MRI均提示先天性子宫缺如，其中1例患儿还同时伴有阴道发育不良，1例患儿合并左侧卵巢缺如，WES均未发现致病性基因变异位点或大片段缺失重复。结论 MRKH综合征特异表现为先天性子宫缺如或发育不良，盆腔MRI是诊断MRKH综合征的影像学金标准，为临床早期确诊与干预前评估提供重要价值。
关键词： MRKH综合征；先天性子宫发育不良；儿童；盆腔磁共振
Abstract
Objective To explore the clinical characteristics of MRKH syndrome with onset before puberty, so as to enhance the level of early diagnosis. Methods A retrospective analysis was conducted on the clinical data of two 9-year-old girls. The data included physical examinations, sex hormone levels, chromosomal karyotypes, pelvic ultrasound and MRI findings, as well as the results of WES. Results In both cases, breast development was observed. Sex hormone tests showed normal levels. The chromosomal karyotypes were 46, XX and 46, XX, 21pstk+ respectively. Pelvic ultrasound and MRI both suggested congenital absence of the uterus. Among them, one girl also had vaginal dysplasia, and another had the absence of the left ovary. WES did not detect pathogenic gene mutation sites or large-scale deletion and duplication. Conclusion s The specific manifestation of MRKH syndrome is congenital absence or dysplasia of the uterus. Pelvic MRI serves as the imaging gold standard for the diagnosis of MRKH syndrome, offering significant value for early clinical diagnosis and pre-intervention evaluation.
Key words： MRKH syndrome; Congenital uterine dysplasia; Child; Pelvic cavity MRI
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