46,XY单纯型生殖腺发育不全患者的临床表型及遗传学研究
Clinical features and genetic analysis of patients with 46,XY pure gonadal dysgenesis

目的:分析8例单纯型生殖腺发育不全患者的临床特征及治疗,并行基因检测以明确病因。方法:回顾性分析8例单纯型生殖腺发育不全患者的临床资料,总结其临床特征及相关辅助检查,所有患者均行SRY基因扩增并测序。结果:8例以原发性闭经、第二性征发育不良等为主要表型的患者染色体核型均为46,XY,所有患者SRY基因扩增均为阳性,其中1例患者存在SRY基因c.280C→G(p.Leu94Val)突变。3例患者行腹腔镜探查并切除性腺,4例患者接受激素补充治疗并持续随访。结论:SRY基因并非单纯型生殖腺发育不全的唯一病因,还可能存在其他致病因素; 单纯型生殖腺发育不全患者应尽早明确诊断,并行性腺切除术及激素补充治疗; 详细的遗传咨询可提高患者的依从性,并对患者的身心健康及长期预后至关重要。
Aim: To analyze the clinical characteristics and treatment of 8 patients with 46,XY pure gonadal dysgenesis(PGD), and perform genetic test to explore the etiology.Methods: Retrospective analysis of the clinical data of 8 patients with PGD was performed. All patients underwent the amplification and Sanger sequencing of SRY gene.Results: The chromosome karyotype was 46,XY in all 8 patients. The SRY gene in all patients was positively amplified and the PCR products were sequenced. A new mutation(c.280C→G)in SRY gene was present in one patient, which was not reported previously. Three patients underwent laparoscopic exploration and gonadectomy. Four patients received hormone replacement therapy and continued follow-up.Conclusion: SRY gene is not the only cause of PGD, some other pathogenic factors may be involved. The patients with PGD should be diagnosed as soon as possible and given gonadectomy and hormone replacement therapy. Early treatment of the patients is essential for a better physical and mental health. Detailed genetic counseling may improve patients' compliance and life quality