CAJ | 학술논문

45，X／46，XY 是一种少见的染色体异常导致性腺发育不全的疾病。因含有发育不良的性腺组织，故发生性腺母细胞瘤的风险增加。该文报道了2例染色体核型为45，X／46，XY 的性腺发育不全合并卵巢肿瘤患儿资料。2例患儿均表现为幼稚外阴，乳房不发育，阴毛无或稀少；实验室检查卵泡刺激素、黄体生成素均明显高于正常水平，B 超示条索状子宫、双侧卵巢显示不清；病理活组织检查均发现性腺母细胞瘤。明确诊断后，2例患儿均在腹腔镜下行双侧性腺切除，随访至撰稿日未见肿瘤复发或转移。该2例的诊治经过提示，性腺发育不全可合并性腺母细胞瘤，应引起临床重视。
45，X／46，XY 시일충소견적염색체이상도치성선발육불전적질병。인함유발육불량적성선조직，고발생성선모세포류적풍험증가。해문보도료2례염색체핵형위45，X／46，XY 적성선발육불전합병란소종류환인자료。2례환인균표현위유치외음，유방불발육，음모무혹희소；실험실검사란포자격소、황체생성소균명현고우정상수평，B 초시조색상자궁、쌍측란소현시불청；병리활조직검사균발현성선모세포류。명학진단후，2례환인균재복강경하행쌍측성선절제，수방지찬고일미견종류복발혹전이。해2례적진치경과제시，성선발육불전가합병성선모세포류，응인기림상중시。
45,X/46,XY karyotype is a rare chromosomal abnormality,which causes the incidence of gonadal dysgenesis.The risk of gonadoblastoma is increased due to dysgenetic gonadal tissues.This study reported two children with 45,X/46,XY gonadal dysgenesis complicated with ovarian tumor.Two affected children were manifested as infantile vulva,breast aplasia and no /scarce pubic hair.Laboratory examination revealed that the levels of follicle stimulating hormone and luteinizing hormone were significantly higher than normal range.B-ultrasound detected funicular uterus and unclear bilateral ovarian.Pathological biopsy found gonadoblastoma.After definite diagnosis,both children underwent bilateral gonadectomy under laparoscope.Subsequent follow-up (postoperative 1 d until the day when manuscript drafting)revealed no signs of tumor re-currence or metastasis.The diagnosis and treatment of these two cases prompt that gonadal dysgenesis can be complicated with ganodoblastoma,which deserves widespread attention from clinicians.