The syndrome of familial dwarfism and high plasma immunoreactive human growth hormone

Abstract

In 1966 we described a syndrome of familial dwarfism which was indistinguishable both clinically and in many of the laboratory findings from pituitary dwarfism, but in which there were abnormally high plasma concentrations of immunoreactive human growth hormone (IR-HGH). The possibility was raised that in these cases the circulating growth hormone is biologically inactive. Additional patients were described two years later, and in recent years we have reported additional clinical and laboratory findings in these and newly-discovered patients, all of whom were of Jewish origin. Subsequently, this syndrome was detected in non-Jewish populations.