Radial defects and testicular dysfunction

Abstract

We describe two unrelated male patients with radial ray defects and increased serum concentrations of follicle stimulating hormone due to testicular dysfunction. This combination of features has not previously been described. Several mouse genes are known to be involved in preaxial limb development and male fertility, suggesting that the combination of radial ray defects and testicular dysfunction may represent a new syndrome in humans. Abnormalities of spermatogenesis or sperm function may constitute an under-recognized feature of human multiple congenital malformation syndromes.