Genetic Testing Proves Crucial in Case of Ambiguous Genitalia and Renal Masses

Urology. 2019 Jul:129:194-196. doi: 10.1016/j.urology.2019.03.011. Epub 2019 Mar 23.

Abstract

Objective: The Denys-Drash syndrome consists of a triad of ambiguous genitalia, Wilm's tumor and nephrotic syndrome.

Methods: We present a diagnostically challenging case of an XY patient with female appearance and Müllerian structures with a WT1 mutation.

Results: These genetic findings resulted in gonadal dysgenesis, end-stage renal disease, and precursor changes to Wilm's tumor in both kidneys. Genetic testing proved critical in this case, helping to solidify a diagnosis and guiding our decision to proceed with bilateral nephrectomy and bilateral gonadectomy.

Conclusions: Denys-Drash syndrome can present quite dramatically. WT1 testing should be considered early in the workup for patients with differences of sexual development, particularly those with 46XY karyotype.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / genetics*
  • Female
  • Genetic Testing
  • Humans
  • Infant, Newborn
  • Kidney
  • Kidney Neoplasms / diagnosis
  • Kidney Neoplasms / genetics*
  • Mutation*
  • Nephrotic Syndrome / diagnosis
  • Nephrotic Syndrome / genetics*
  • Sex-Determining Region Y Protein / genetics*
  • Sex-Determining Region Y Protein / metabolism
  • Tomography, X-Ray Computed
  • Ultrasonography
  • WT1 Proteins / genetics*
  • WT1 Proteins / metabolism
  • Wilms Tumor / diagnosis
  • Wilms Tumor / genetics*

Substances

  • SRY protein, human
  • Sex-Determining Region Y Protein
  • WT1 Proteins
  • WT1 protein, human