机构：[1]Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu 610041, China.四川大学华西医院[2]Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu 610041, China.四川大学华西医院[3]Outpatient Department, West China Hospital of Sichuan University, Chengdu 610041, China.四川大学华西医院
Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. It is associated with male gonadal dysgenesis (female external genitalia with a 46 XY karyotype), and a high risk of gonadoblastoma during adolescence. Patients with FS present early in childhood with proteinuria that progressively worsens with a high likelihood of end-stage renal disease (ESRD). Herein, we report a 15-year-old female (karyotype 46, XY) patient characterized by delayed puberty and steroid-resistant nephrotic syndrome, in whom whole genome sequencing showed a mutation in intron 9 of the WT1 gene, c.1447 + 4 C>T. This is the first case of FS with delayed puberty as the first complaint with no previous renal symptoms. We consider delayed puberty as an important manifestation of FS and summarize the diagnostic process of delayed puberty in the female phenotype. For clinicians, delayed puberty is a common disorder in pediatrics but requires vigilance for some rare causes. Etiological screening and chromosome karyotype analysis are important for the early diagnosis of FS in patients with delayed puberty.
基金：
National Natural Science Foundation of China, grant number
82070660; Department of Science and Technology of Sichuan Province, grant number 2020YFQ0020;
Department of Science and Technology of Sichuan Province, grant number 2021ZHYZ0023; Clinical
Research Incubation Project ofWest China Hospital, Sichuan University, grant number 2021HXFH009
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2023]版：
大类|4 区医学
小类|3 区儿科
最新[2023]版：
大类|4 区医学
小类|3 区儿科
第一作者：
第一作者机构：[1]Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu 610041, China.
通讯作者：
推荐引用方式(GB/T 7714)：
Shao Qing,Xie Xinglei,Geng Jia,et al.Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy[J].Children (Basel, Switzerland).2023,10(3):doi:10.3390/children10030577.
APA：
Shao Qing,Xie Xinglei,Geng Jia,Yang Xiaoling,Li Wei&Zhang Yuwei.(2023).Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy.Children (Basel, Switzerland),10,(3)
MLA：
Shao Qing,et al."Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy".Children (Basel, Switzerland) 10..3(2023)
