部分型46,XY单纯性腺发育不全合并CFTR基因突变--病例报告与分析  

46,XY partial pure gonadal dysgenesis with CFTR gene mutations:a case report and analysis

作　　者：罗振宇 田秦杰[2] LUO Zhen-yu;TIAN Qin-jie(Peking Union Medical College Hospital,Peking Union Medical College/Chinese Academy of Medical Sciences,Beijing 100730;Xiamen Maternity & Child Health Care Hospital,Xiamen 361003)

机构地区：[1]厦门市妇幼保健院,厦门361003 [2]中国医学科学院,北京协和医学院,北京协和医院妇产科,北京100730

出　　处：《生殖医学杂志》2018年第1期21-25,共5页Journal of Reproductive Medicine

基　　金：国家自然科学基金(81671424)

摘　　要：目的对1例部分型46,XY单纯性腺发育不全合并CFTR基因错义突变(220C>T、2563G>A)患者进行报道。方法分析1例因阴蒂肥大就诊、并行性腺切除和阴蒂整形术治疗的12岁女孩临床资料,包括临床表现、性激素、染色体、超声和基因检查(AR、SRY和CFTR)资料。结果患者FSH 70.00U/L,HCG刺激实验阳性。超声检查未探及性腺及子宫,染色体核型为46,XY。AR和SRY基因检测未发现基因突变,但囊性纤维化跨膜传导调节因子(CFTR)基因检测发现220C>T和2563G>A两个突变位点,该基因突变可导致起囊性纤维化。腹腔镜下对患者行右侧性腺切除术(未探及左侧性腺),术后给予雌激素替代治疗,20个月后超声检查提示双子宫、双阴道畸形并开始出现撤退性出血。结论部分型46,XY单纯性腺发育不良合并2个CFTR基因位点突变目前尚未见报道,两者是否存在相关性需进一步研究。To report a case history of patient with46XY partial pure gonadal dysgenesis and two missense mutations(220C>T and2563G>A)in the cystic fibrosis transmembrane conductive regulator(CFTR)gene Methods:The clinical data of12year old girl who visited hospital due to clitoral hypertrophy and underwent gonadotomy and clitoroplasty were analyzed The clinical data included the determination results of sex hormones,ultrasound,chromosome,AR gene,SRY gene&CFTR gene Results:The patient’s FSH levels were7000U/L and hCG stimulation test was positive No gonads and uterus were visualized by B ultrasonography Karyotype analysis revealed46,XY karyotype AR gene and SRY gene were positive but no gene mutation was detected However,CFTR gene detection found two mutation sites(220C>T and2563G>A),which was likely responsible for cystic fibrosis Right side gonad was visualized and removed by laparoscopy,but left side gonads were not visualized After20months postoperative estrogen therapy,ultrasonography revealed uterus didelphys&double vagina,and the first withdrawal bleeding occurred later Conclusions:Rare case of46,XY partial pure gonadal dysgenesis associated with two specific mutations in CFTR has not been reported However the association of CFTR mutant proteins with46,XY partial gonadal dysgenesis need to be further studied

关 键 词：性发育异常 部分型46 XY单纯性腺发育不全 囊性纤维化 囊性纤维化跨膜传导调节因子基因 

分 类 号：R713[医药卫生—妇产科学]