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.
D004700:Endocrine System Diseases / Q000209:etiology / Q000235:genetics*; D004798:Enzymes / Q000172:deficiency; D005799:Genes, Dominant; D005808:Genes, Recessive; D006728:Hormones / Q000172:deficiency; D006801:Humans; D009154:Mutation; D012730:Sex Chromosomes
D004798:Enzymes; D006728:Hormones