生殖医学杂志2018，Vol.27Issue(1)：21-25,5.DOI:10.3969/j.issn.1004-3845.2018.01.005
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
摘要
Abstract
Objective:To report a case history of patient with 46 XY partial pure gonadal dysgenesis and two missense mutations(220C＞T and 2563G＞ A)in the cystic fibrosis transmembrane conductive regulator (CFTR) gene.Methods:The clinical data of 12-year-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 were 70.00 U/L and hCG stimulation test was positive.No gonads and uterus were visualized by B-ultrasonography.Karyotype analysis revealed 46,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 and 2563G＞A),which was likely responsible for cystic fibrosis.Right side gonad was visualized and removed by laparoscopy,but left side gonads were not visualized.After 20 months postoperative estrogen therapy,ultrasonography revealed uterus didelphys & double vagina,and the first withdrawal bleeding occurred later.Conclusions:Rare case of 46,XY partial pure gonadal dysgenesis associated with two specific mutations in CFTR has not been reported.However the association of CFTR mutant proteins with 46,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Key words
Disorders of sexual development/46,XY partial gonadal dysgenesis/Cystic fibrosis/Cystic fibrosis transmembrane conductive regulator gene引用本文复制引用
罗振宇,田秦杰..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[J].生殖医学杂志,2018,27(1):21-25,5.基金项目
国家自然科学基金(81671424) （81671424）
