Adamian L V, Murvatov K D, Sorour Y A, Kirillova Y A, Khashukoyeva A Z
Department of Operative Gynecology, Russian Academy of Medical Sciences Moscow, Russia.
Int J Fertil Menopausal Stud. 1996 May-Jun;41(3):293-7.
To analyze clinical examination, surgical treatment, main features of the surgical plan, and course of the early postoperative period and immediate results of surgery in 624 patients with various malformations of the uterus and vagina.
General clinical examination: endoscopic methods, including hysteroscopy and laparoscopy, cytogenetic and genealogic investigation, estimation of biochemical markers (serum levels) of patients with Müllerian anomalies (polymorphous and monomorphous loci).
Karyotype examination revealed that 90.7% of 86 patients examined had normal 46XX karyotype, while sex chromosome mosaicism was present in 9.3% of cases. Genealogic analyses have shown that 39.8% of probands' relatives had reproductive system disorders. Genetic analysis of genealogical trees of patients with malformations of uterus and vagina revealed the recessive type of inheritance. Utilization of up-to-date procedures (hysteroscopy, resectoscopy, laparoscopy) facilitates performing the operations for genital malformations, provides reduction of operation time and postoperative hospital stay, and considerably increases the efficacy of surgical treatment.
Factors of heredity play an important role in etiology of congenital malformation of the uterus and vagina. Modern endoscopic procedures can be successfully used in differential diagnosis of genital malformations, as well as during surgical treatment.
分析624例子宫和阴道各种畸形患者的临床检查、手术治疗、手术方案的主要特点、术后早期病程及手术近期效果。
一般临床检查：采用内窥镜检查方法，包括宫腔镜检查和腹腔镜检查、细胞遗传学和系谱学研究，评估苗勒氏管异常（多形性和单形性位点）患者的生化标志物（血清水平）。
染色体核型检查显示，在86例接受检查的患者中，90.7%具有正常的46XX核型，而9.3%的病例存在性染色体嵌合现象。系谱分析表明，39.8%的先证者亲属患有生殖系统疾病。对子宫和阴道畸形患者的系谱树进行遗传分析，揭示了隐性遗传类型。采用最新手术方法（宫腔镜检查、电切镜检查、腹腔镜检查）有助于实施生殖器畸形手术，减少手术时间和术后住院时间，并显著提高手术治疗效果。
遗传因素在子宫和阴道先天性畸形的病因中起重要作用。现代内窥镜手术方法可成功用于生殖器畸形的鉴别诊断及手术治疗过程中。
