目的　分析Frasier综合征的临床病理及致病基因特征。方法　回顾分析1例Frasier综合征患儿的临床、病 理特点，基因检测结果及诊治过程，并复习相关文献。结果　患儿具有女性外生殖器，染色体核型46,XY，性腺发育不良 （双侧卵巢未发育）；肾病起病年龄为6岁，激素治疗无效。先后使用他克莫司、利妥昔单抗，虽血清白蛋白、胆固醇有所 改善，肾功能无异常，但尿蛋白始终不能转阴。肾脏活检病理示局灶节段性肾小球硬化症，非特殊型，伴部分肾小球硬化。 未发现性腺肿瘤、Wilms瘤等。基因检测WT1基因外显子9的c.1432 +5G>A剪接突变，为自发突变，已报道与Frasier综 合征致病相关。结论　Frasier综合征临床表现主要为进展性肾病、男性假两性畸形、泌尿生殖系统畸形，与WT1基因突 变有关。

　Objective　To analyze the clinicopathological and pathogenic gene characteristics of Frasier syndrome. Method　The clinicopathological features, genetic testing results and diagnosis and treatment of Frasier syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　The child had external female genitalia, with a 46, XY karyotype, and suffered from gonadal dysplasia (bilateral ovaries were not developed). The age at onset of nephropathy was 6 years old, and hormone therapy was ineffective. The child was treated with tacrolimus and rituximab successively. Although the serum albumin and cholesterol levels were improved and the renal function was normal, the urinary protein could not turn negative. Kidney biopsy revealed focal segmental glomerulosclerosis, a non-specific type with partial glomerulosclerosis. No gonadal tumors or Wilms tumors were found. Splice mutation of c.1432+5G>A in exon 9 of WT1 gene was detected by gene analysis, which was a spontaneous mutation and was reported to be associated with the pathogenesis of Frasier syndrome. Conclusion　The clinical manifestations of Frasier syndrome are mainly progressive nephropathy, male pseudohermaphroditism and genitourinary malformation. It is related to WT1 gene mutation.