The genetics of endocrine neoplasia

The hereditary endocrine neoplasias are characterized by the development of benign or malignant tumors in more than one endocrine tissue. These tumors typically occur at a younger age than sporadic endocrine tumors and follow an autosomal dominant pattern of inheritance. Because of the age-related penetrance and extreme phenotypic variability both within and between families, clinicians cannot always rely on the family history to make the diagnosis. Recognition of the features of a hereditary endocrine syndrome can allow for appropriate and timely risk assessment, genetic counseling and genetic testing, and identification of at-risk family members who may benefit from early and regular screening.