45,X/46,XY性腺发育不全合并卵巢肿瘤2例

45,X /46,XY gonadal dysgenesis complicated with ovarian tumor: a report of two cases

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 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.