性发育异常39例临床、病理与影像学特点

Characteristics of clinical manifestations,pathology and imaging of 39 patients with disorder of sex development

目的:探讨各类型性发育异常(DSD)患者的临床、影像学与病理学特点,以提高对该病的认识。方法:回顾性分析39例DSD患者的临床资料,其中46,XY DSD 16例,46,XX DSD 14例,染色体异常DSD 9例。结果:39例患者中,社会性别男性11例,社会性别女性28例。男性外阴表型9例,女性外阴表型25例,性别模糊不清5例。23例患者行腹腔镜探查术。16例46,XY DSD患者术中探查可见性腺29个;影像学可见21(72%)个,其中卵巢3个,隐睾17个,卵睾1个;手术可见而影像学未见8个;手术及影像学均未见3个。14例46,XX DSD患者术中探查可见性腺28个,影像学可见24(85%)个,其中卵睾3个,卵巢20个,睾丸1个;影像学未见4个。9例染色体异常DSD患者术中探查可见性腺18个,影像学可见6(33%)个。结论:影像学检查有助于发现DSD患者发育异常的性腺与生殖道,与其特征性临床表现及病理相结合,对于提高DSD的诊断正确率和制定治疗策略具有重要意义。

Aim:To investigate the characteristics of clinical manifestations,pathology and imaging findings of patients with disorder of sex development(DSD),in order to improve the understanding of the disease.Methods:Thirty-nine patients with DSD(16 cases of 46,XY,14 cases of 46,XX,9 cases of sex chromosome abnormality)were retrospectively analyzed.Results:Social genders of the 39 patients included 11 males and 28 females.Clinical presentations included female external genitalia in 25 cases,male external genitalia in 9 cases and ambiguous external genitalia in 5 cases.A total of 23 patients underwent laparoscopic gonad exploration surgery.In 16 cases of 46,XY DSD,laparoscopic gonad exploration surgery discovered 29 gonads,ultrasound/MRI showed 21(72%)gonads(3 ovaries,17 cryptorchidisms and 1 ovariotestis),8 gonads were discovered by laparoscopic gonad exploration surgery but not by ultrasound/MRI,and 3 gonads were neither found in both examinations.In 14 cases of 46,XX DSD,laparoscopic gonad exploration surgery discovered 28 gonads,ultrasound/MRI showed 24(85%)gonads(20 ovaries,1 testis and 3 ovariotestes),and 4 gonads were not showed.In 9 cases of sex chromosome abnormality,laparoscopic gonad exploration surgery discovered 18 gonads,while utrasound/MRI showed 6(33%)gonads.Conclusion:MRI and ultrasonography examination are effective at detection of dysplasia gonads,uterus and vagina,in combination with clinical manifestations and pathology,it is valuable in improving the diagnosis and treatment of patients with DSD.