Mechanisms of gene action in disorders of the endocrine glands

Hereditary endocrinopathies may result from a wide variety of distinct pathogenetic mechanisms, including: abnormalities in hormonal structure, synthesis or secretion; neurostimulatory defects; biosynthetic enzyme deficiencies; developmental malformations; degenerative disorders; hormonal antagonists; peripheral unresponsiveness to hormonal action; and glandular hyperplasia and neoplasia. The majority of these defects can result in the same phenotype: ie, an endocrine deficiency state. Hormonal deficiency states are usually recessively inherited, whereas those involving glandular hyperplasia or neoplasia are usually dominantly inherited.