Endocrinological studies in ataxiatelangiectasia and other immunological deficiency diseases

Abstract

Endocrinological and immunological studies were performed in five patients with ataxia-telangiectasia, two patients with sex-linked non-lymphopenic hypogammaglobulinaemia, one patient with sex-linked lymphopenic hypogammaglobulinaemia, and two patients with hypopituitary dwarfism. One of five patients with ataxia-telangiectasia had deficient growth hormone responses to insulin-induced hypoglycaemia but normal responses to arginine infusion. One pubertal ataxia-telangiectasia patient had increased gonadotropin secretion. Patients with hypopituitary dwarfism failed to respond to insulin-induced hypoglycaemia and arginine infusion with increased growth hormone secretion. The patients with sex-linked lymphopenic and non-lymphopenic hypogammaglobulinaemia had normal endocrine function. Immunological studies indicated defects in humoral and cellular immunity in the patients with ataxia-telangiectasia and sex-linked lymphopenic and non-lymphopenic hypogammaglobulinaemia, whereas normal immunological function was demonstrated in the patients with hypopituitary dwarfism. No relationship between endocrinological and immunological function could be demonstrated in these patients.