Genetic testing in endocrinology

Abstract

In this chapter, we discuss the different factors to consider when evaluating patients with a suspected genetic endocrine disorder so as to guide practitioners through the process of genetic testing and interpretation of results. Clinical examples will be used to highlight the general principles of when and how to use genetic information in the clinical care of patients. Recent advances in our understanding of genetics and genomics are discussed, as well as their implications on the diagnosis and management of rare Mendelian disorders such as multiple endocrine neoplasia type 1, but also multifactorial disorders with a strong genetic component, such as type 2 diabetes mellitus. The reader will hopefully be able to use the information in this chapter as a practical guide on the clinical significance and utility of genetic testing for heritable endocrine disorders.