Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases

The development of chronic renal failure because of parenchymatous renal disease in patients in 46,XY gonadal dysgenesis was noted initially by Drash et al [J Pediatr 76:585-593, 1970]. However, we think that some of the cases reported as examples of the Drash syndrome are a different disorder. In this paper, we review six previously reported patients with streak gonads, pseudohermaphroditism, and renal failure. In several of these patients the diagnosis was established only after a successful kidney transplantation during evaluation for primary amenorrhea. Gonadoblastoma arising from the streak gonad was noted in five of the six patients. "Frasier" syndrome would be a suitable term to denote this association after Frasier et al, who described two patients in 1964. We recommend evaluation of the gonads in prepubertal girls with end-stage renal disease at risk for this syndrome.