[1]王斯嘉),方兰兰),王晓娟),等.性发育异常39例临床、病理与影像学特点[J].郑州大学学报(医学版),2019,(05):770-774.[doi:10.13705/j.issn.1671-6825.2018.12.112]
 WANG Sijia),FANG Lanlan),WANG Xiaojuan),et al.Characteristics of clinical manifestations, pathology and imaging of 39 patients with disorder of sex development[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2019,(05):770-774.[doi:10.13705/j.issn.1671-6825.2018.12.112]
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性发育异常39例临床、病理与影像学特点()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2019年05期
页码:
770-774
栏目:
应用研究
出版日期:
2019-09-20

文章信息/Info

Title:
Characteristics of clinical manifestations, pathology and imaging of 39 patients with disorder of sex development
作者:
王斯嘉1)方兰兰1) 王晓娟2)张 焱3)孙莹璞1)
1)郑州大学第一附属医院生殖与遗传专科医院 郑州 450052;2)郑州大学第一附属医院病理科 郑州 450052;3)郑州大学第一附属医院核磁共振科 郑州 450052
Author(s):
WANG Sijia1)FANG Lanlan1)WANG Xiaojuan2)ZHANG Yan3)SUN Yingpu1)
1)Reproductive and Genetic Specialized Branch Hospital, the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052;2)Department of Pathology, the First Affiliated Hospital,Zhengzhou University, Zhengzhou 450052;3)Department of MRI, the First Affi
关键词:
性发育异常 磁共振成像 超声 病理 诊断
Keywords:
disorder of sex development MRI ultrasonography pathology diagnosis
分类号:
R711.1
DOI:
10.13705/j.issn.1671-6825.2018.12.112
摘要:
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。
Abstract:
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.

参考文献/References:

[1] MOSHIRI M,CHAPMAN T,FECHNER PY,et al.Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis[J].Radiographics,2012,32(6, SI):1599
[2] LEE PA,NORDENSTROM A,HOUK CP,et al.Global disorders of sex development update since 2006: perceptions, approach and care[J].Horm Res Paediatr,2016,85(3):158
[3] HUGHES IA,NIHOUL-FÉKÉTÉC,THOMAS B,et al.Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development[J].Best Pract Res Clin Endocrinol Metab,2007,21(3):351
[4] AMARAL RC,INACIO M,BRITO VN,et al.Quality of life of patients with 46,XX and 46,XY disorders of sex development[J].Clin Endocrinol(Oxf),2015,82(2):159
[5] 伊鹏,牛会林,高秋,等.儿童性发育异常性腺病理学观察[J].中华病理学杂志,2018,47(7):531
[6] 余方芳,周秀萍,李崇寿,等.超声在两性畸形诊断中的应用价值[J].中华超声影像学杂志,2012,21(10):880
[7] MANSOUR SM,HAMED ST,ADEL L,et al.Does MRI add to ultrasound in the assessment of disorders of sex development?[J].Eur J Radiol,2012,81(9):2403
[8] MAZZANTI L,CACCIARI E,BERGAMASCHI R,et al.Pelvic ultrasonography in patients with turner syndrome: age-related findings in different karyotypes[J].J Pediatr,1997,131(1 Pt 1):135
[9] HUGHES IA,HOUK C,AHMED SF,et al.Consensus statement on management of intersex disorders[J].Arch Dis Child,2006,91(7):554
[10]HUGHES IA.Disorders of sex development: a new definition and classification[J].Best Pract Res Clin Endocrinol Metab,2008,22(1):119
[11]SALENAVE S,TRABADO S,MAIONE L,et al.Male acquired hypogonadotropic hypogonadism: diagnosis and treatment[J].Ann Endocrinol(Paris),2012,73(2):141
[12]VERKAUSKAS G,JAUBERT F,LORTAT-JACOB S,et al.The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery[J].J Urol,2007,177(2):726
[13]KROB G,BRAUN A,KUHNLE U.True hermaphroditism:geographical distribution,clinical findings,chromosomes and gonadal histology[J].Eur J Pediatr,1994,153(1):2
[14]徐洪恩,吴恩福.睾丸肿瘤的CT诊断[J].医学影像学杂志,2007,17(1):65
[15]ZAINUDDIN AA,MANDY ZA.The islamic perspectives of gender-related issues in the management of patients with disorders of sex development[J].Arch Sex Behav,2017,46(2):353
[16]魏仪,吴盛德,林涛,等.卵睾型性发育异常单中心临床诊治分析[J].中华小儿外科杂志,2016,37(7):501

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备注/Memo

备注/Memo:
【作者简介】孙莹璞,通信作者,女,1962年11月生,博士,教授,研究方向:生殖医学,E-mail:syp2008@vip.sina.com
更新日期/Last Update: 2019-09-20