Abstract Whole genome sequencing is not at present cost-effective in most settings. But today’s molecular genetic laboratory can effectively sequence panels of several hundred genes, and even entire exomes without…

Abstract This chapter addresses the role of genetic counseling in the diagnosis of hereditary syndromes, particularly hereditary endocrine diseases. Genetic counseling is a communication process that encompasses risk assessment, informed…

Abstract Multiple endocrine neoplasia type 1 is an autosomal dominantly inherited syndrome. MEN1 is characterized by the occurrence of tumors of the parathyroid glands, the pancreatic islets, the anterior pituitary…

Abstract The rare autoimmune polyglandular failure syndromes (APS) comprise a juvenile (APS1) and an adult type (APS2 and 3). APS1 is caused by mutations in the autoimmune regulatory ( AIRE…

Abstract Insulin resistance most commonly occurs in the context of obesity or other metabolic stressors, such as acute illness or inflammation; however, several known single gene defects are sufficient to…

Abstract In the last two decades, great progress has been made in refining the classification and elucidating the molecular basis of genetic lipodystrophies, rare disorders characterized by selective loss of…

Abstract Obesity, defined as an excess fat mass, results from individual genetic and biological susceptibilities in response to the current weight-gain promoting environment. There is thus a synergistic relationship between…

Abstract Androgens are critical to the normal developmental processes in vertebrates, affecting the development of the normal male phenotype during embryogenesis and regulating a range of processes in adults. In…

Abstract Disorders of sex development (DSD) are rare disorders occurring when there is a discordance between chromosomal, gonadal, or phenotypic sex. These occur in the presence of genetic mutations that…

Abstract Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders in which genetic enzyme deficiencies impair normal steroid synthesis. The production of cortisol in the zona fasciculata…