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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&gt;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.<\/jats:p>","DOI":"10.3390\/children10030577","type":"journal-article","created":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T05:36:01Z","timestamp":1679031361000},"page":"577","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy"],"prefix":"10.3390","volume":"10","author":[{"given":"Qing","family":"Shao","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinglei","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Geng","sequence":"additional","affiliation":[{"name":"Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoling","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"Outpatient Department, West China Hospital of Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2281-5000","authenticated-orcid":false,"given":"Yuwei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,17]]},"reference":[{"key":"ref_1","first-page":"499","article-title":"Frasier syndrome","volume":"2006","author":"Kohsaka","year":"2006","journal-title":"Nihon Rinsho"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/gcc.2870070304","article-title":"Homozygous inactivation of WT1 in a Wilms\u2019 tumor associated with the WAGR syndrome","volume":"7","author":"Gessler","year":"1993","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2931","DOI":"10.1073\/pnas.96.6.2931","article-title":"A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome","volume":"96","author":"Patek","year":"1999","journal-title":"Proc. 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