A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male.

Abstract excerpt

Mutations in the WT1 gene can lead to Denys-Drash syndrome or Frasier syndrome and can also cause isolated nephrotic syndrome (NS). Most patients with isolated NS caused by WT1 mutations present as 46, XX phenotypic females. There have been two cases with an onset age younger than 3 years with isolated NS caused by WT1 mutations presenting as 46, XY phenotypic males. We present a 46, XY phenotypic male patient...

Topics

• Child
• Denys-Drash Syndrome
• Frasier Syndrome
• Humans
• Kidney Failure, Chronic
• Male
• Mutation
• Nephrotic Syndrome
• Phenotype
• WT1 Proteins