Purine de novo synthesis and salvage during testicular development in the rat.

Abstract

We have encountered several patients with the Lesch-Nyhan syndrome in whom, although the testes were clinically normal in early childhood, they failed to develop at puberty and in one they could not be found at autopsy when he was 18 years old. This patient showed no evidence of pre-pubertal development although the plasma testosterone and gonadotrophin levels were consistent with approaching puberty and with his bone age of 13.2 years1. The testes of another clinically prepubertal Lesch-Nyhan syndrome patient who died at age 14 years showed tubules lined by simple germinal epithelium with no evidence of spermatogenesis. The interstitial tissue contained: numerous fibroblastic cells but no interstitial cells (Leydig cells) were seen.