J Korean Pediatr Soc.  1994 Jun;37(6):872-879.

A Case of Incomplete Drash Syndrome

• Park IJ
• Yim H
• Lee JS
• Jeong HJ
• Jung WH

Abstract

Drash syndrome, which was first reported by Denys et al. in 1967 is a complex disorder which associates a nephropathy, Wilms' tumor, and male pseudohermaphroditism. The common denominator is a nephropathy. The nephropathy may be associated with either genital abnormalities or Wilms' tumor, and these associations are called incomplete form of Drash syndrome. This syndrome appears early in life and the first sign usually is genital ambiguity. The nephropathy presents with proteinuria, hematuria and hypertension, and eventually progresses to end stage renal failure. Renal biopsy may reveal a variety of glomerular and interstitial changes. Wilms' tumor may appear as s mass on ultrasound or it may not be recognized until nephrectomy or even autopsy. We report on a boy with nephropathy and genital abnormalities. A nephrotic syndrome with hypertension was present when first seen at 15 days of age. The karyotype was 46, XY and external genitalia was ambiguous. The nephrotic syndrome and signs of renal insufficiency persisted and he died at the age of 40 days. Histopathologic findings of kidney at autopsy revealed those of diffuse mesangial sclerosis. The case was presented with brief review of literatures.

MeSH Terms

46, XY Disorders of Sex Development
Autopsy
Biopsy
Denys-Drash Syndrome*
Disorders of Sex Development
Genitalia
Hematuria
Humans
Hypertension
Karyotype
Kidney
Male
Nephrectomy
Nephrotic Syndrome
Proteinuria
Renal Insufficiency
Sclerosis
Ultrasonography
Wilms Tumor