Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one

The nephropathy-XY gonadal dysgenesis syndrome in a 17-year-old phenotypical female with focal glomerulosclerosis was associated with renal failure in two sisters, one with crescentic glomerulonephritis at 27 months, and one with membranoproliferative glomerulonephritis at 10 years. Neither the propositus or the siblings had the distinctive mesangial sclerosis of nephropathy-XY dysgenesis, type 1 (Drash syndrome). The association of nephropathy-XY dysgenesis with familial nephritis of heterogeneous pathology suggests that nephropathy-XY dysgenesis, type 2, may relate to separate genetic loci for XY dysgenesis and glomerulopathy or reflect a loss of protection against familial renal disease when the Y chromosome is absent or defective.