Juvenile familial endocrinopathy.

Abstract

A case of primary hypothyroidism, idiopathic Addison's disease, idiopathic hypoparathyroidism (with preceding moniliasis), Addisonian pernicious anaemia and primary ovarian failure is described. She died at the age of 24 years following an illness compatible with adrenal crisis. At post-mortem there was no recognizable adrenal or ovarian tissue; there was only a minute portion of probable parathyroid tissue and the uterus was infantile. Her serum contained antibodies reactive with adrenal cortex, steroid-producing cells in the gonads, placental trophoblasts and thyroid epithelial cytoplasm and intrinsic factor. Her brother, who was known to have gluten enteropathy, died aged 11 years following an illness compatible with adrenal crisis. His adrenal glands were grossly atrophic at autopsy. The parents were consanguinous and both showed either clinical or serological evidence of organ specific autoimmune disease.