Frasier syndrome is an uncommon genetic condition linked to mutations in the Wilms tumor 1 (WT-1) gene. It primarily affects individuals with a 46, XY karyotype and is characterized by gonadal dysgenesis, progressive kidney disease, and an elevated risk of developing gonadoblastoma. Due to its rarity and diverse manifestations, diagnosing Frasier Syndrome poses significant challenges and necessitates a comprehensive, multidisciplinary approach.

 

We present the case of a 20-year-old patient assigned female at birth, who was assessed for primary amenorrhea and nephrotic syndrome resulting from Focal Segmental Glomerulosclerosis (FSGS), ultimately requiring kidney transplantation. Further evaluation identified a 46, XY karyotype, aligning with Frasier Syndrome diagnosis. The patient was referred to our department and underwent a laparoscopic gonadectomy, revealing streak gonads during the procedure. Histopathological examination indicated hilus Leydig Cell hyperplasia. The patient had a smooth recovery and is currently stable, receiving estrogen therapy for hormonal replacement

This case underscores the critical need for prompt identification and a collaborative care strategy in the management of Frasier Syndrome to mitigate potential complications, such as gonadoblastoma. Although it is a rare condition, maintaining a high level of awareness is essential for patients experiencing delayed puberty, amenorrhea, and chronic kidney disease, which can significantly enhance their outcomes and quality of life.