性发育异常患者性腺分化临床病理学分析  

Clinicopathological analysis of gonadal differentiation of sex development disorder

作　　者：金华 刘振华[1] 丁怡鑫 李琳[1] 胡海 刘爱军[1] Jin Hua;Liu Zhenhua;Ding Yixin;Li Lin;Hu Hai;Liu Aijun(Department of Pathology,the Seventh Medical Center,Chinese People′s Liberation Army General Hospital,Beijing 100700,China;Department of Clinical Medicine,Qiqihar Medical University,Qiqihar 161006,China)

机构地区：[1]解放军总医院第七医学中心病理科,北京100700 [2]齐齐哈尔医学院临床医学系,齐齐哈尔161006

出　　处：《中华病理学杂志》2024年第2期162-167,共6页Chinese Journal of Pathology

摘　　要：目的探讨性发育异常患者性腺的病理形态学特点及其鉴别诊断。方法收集解放军总医院第七医学中心2007年4月至2021年7月临床诊断为两性畸形且在本院病理科有性腺活检的病例,复阅全部活检病理切片,从中筛选出性腺病理形态学异常的病例。分析其临床和影像学资料及核型等,补充免疫组织化学检查并复习相关文献。结果镜下观察筛选出卵睾型性发育异常7例,病理特征是同一个体同时有卵巢和睾丸分化;患者年龄均小于15岁,社会性别男女比例为2∶5;临床表现均为外生殖器外观异常;B超检查发现女性患儿均有睾丸样物,男性患儿均有隐睾;46,XX核型最多。筛选出未分化性腺组织及条索状性腺各1例。未分化性腺组织生殖细胞既不在曲细精管中也不在卵泡中,而是随机分布在卵巢型间质背景中,有时伴有未成熟的性索。条索状性腺类似于无生殖细胞的未分化性腺组织。免疫组织化学FOXL2在粒层细胞阳性表达,支持细胞阴性;SOX9表达与之相反;OCT4在卵母细胞弱阳性/阴性表达,在未分化性腺组织中生殖细胞核阳性表达。结论性腺活检需明确4种分化模式:卵巢分化、睾丸分化、未分化性腺组织及条索状性腺。SOX9阳性提示睾丸分化,FOXL2阳性证实卵巢分化,同一组织内两者都有表达则是卵睾分化。鉴别出未分化性腺组织非常重要,因未分化性腺组织将来发展为性腺母细胞瘤概率高。Objective To investigate pathological features and differential diagnosis in the gonads with disorder of sex development.Methods Thirty-six cases of clinically diagnosed hermaphroditism with gonadal biopsy in the Department of Pathology,the Seventh Medical Center of People′s Liberation Army General Hospital from April 2007 to July 2021,were collected.All biopsy pathological sections were reviewed,and the gonadal cases with abnormal pathological morphology were screened out.The clinical and imaging data and karyotype of these cases were reviewed.Additional immunohistochemical staining was performed and relevant literature was reviewed.Results Seven cases of ovotesticular disorder of sex development(OTDSD)were identified,which were characterized by the presence of testicular and ovarian differentiation in the same individual.All patients were under 15 years old and presented with abnormal appearance of external genitalia,and the ratio of male to female was 2∶5.Ultrasonography showed testicular structure in all female patients and cryptorchidism in all male patients.The most common karyotype was 46,XX.One case with undifferentiated gonadal tissue(UGT)and one case with streak gonads were screened out.UGT germ cells were neither in seminiferous tubules nor in follicles,but randomly distributed in an ovarial-type interstitial background,sometimes accompanied by immature sex cords.Streak gonads resembled UGT without germ cells.FOXL2 was positive in granulosa cells,but negative in Sertoli cells.SOX9 expression was opposite.OCT4 was weakly positively/negatively expressed in oocytes and positively expressed in the germ nuclei of UGT.Conclusions Four differentiation patterns need to be identified in the gonadal biopsy:ovarian differentiation,testicular differentiation,undifferentiated gonadal tissue and streak gonad.The positive expression of SOX9 indicates testicular differentiation,while the positive expression of FOXL2 confirms ovarian differentiation,and the expression of both markers in the same tissue indicates ov

关 键 词：染色体 免疫组织化学 卵睾型性发育异常 

分 类 号：R588[医药卫生—内分泌]