腹腔镜治疗米勒管永存综合征1例并家系调查

Laparoscopic management of persistent Müllerian duct syndrome:A case report and pedigree investigation

目的:探讨米勒管永存综合征(PMDS)的临床特征、诊治方法及发病原因。方法:根据临床表现、超声、实验室检查及前期手术诊断1例3岁PMDS患儿,对患儿及家系成员进行遗传学检测,腹腔镜下楔形切除幼稚子宫,活检并下降双侧睾丸,双侧内环口结扎;结合相关文献报道进行回顾性分析。结果:手术顺利,性腺活检为睾丸组织,术中所见和相关检测证实为PMDS;随访半年双侧睾丸血供良好。医学外显子组测序发现患儿及其胞姐为AMHR2基因c.1499G>A(p.Cys500Tyr)突变纯合子(A/A),患儿父母为突变杂合子(G/A)。结论:腹腔镜对PMDS诊断及治疗优势明显,疗效确切,在保证睾丸血供的情况下尽量切除子宫,对无法下降的睾丸应给予切除;AMHR2基因c.1499G>A(p.Cys500Tyr)纯合突变可导致男性PMDS,家系调查可为再次生育提供遗传学咨询与依据。

Objective:To investigate the clinical characteristics,diagnosis,treatment and etiology of persistent Müllerian duct syndrome(PMDS).Methods:A 3-year-old boy was diagnosed with PMDS according to the clinical manifestations and the results of ultrasonography,laboratory examinations and earlier surgical examination.We performed genetic tests for the patient and his family members,removed the infantile uterus by laparoscopic wedge hysterectomy,biopsied and descended the bilateral testes,and ligated the bilateral internal rings,followed by a retrospective analysis and review of relevant literature.Results:The operation was successful.Gonad biopsy revealed testis tissue,and PMDS was confirmed by intraoperative findings and related examinations.Good bilateral testicular blood supply was found during the 6-month follow-up after surgery.Medical exome sequencing showed the AMHR2 gene c.1499 G>A(p.Cys500 Tyr)mutant homozygote(A/A)in the patient and his sister and mutant heterozygote(G/A)in his parents.Conclusion:Laparoscopy is definitely effective for the treatment of PMDS.In surgery,the infantile uterus should be removed in case of good blood supply to the testis,and so were the bilateral testes if they cannot be descended.The homozygous mutation in the AMHR2 gene c.1499 G>A(p.Cys500 Tyr)can lead to male PMDS.Pedigree investigation may provide some evidence for possible fertility in PMDS patients.