Genetic Diagnosis of Growth Failure
Abstract Growth hormone (GH) insensitivity can result from molecular defects at multiple levels, including the genes for the GH receptor ( GHR ), signal transducer and activator of transcription (…
Introduction to Applications of Genomic Sequencing
Abstract Since completion of the Human Genome Project in 2001, dynamics in human genetics have greatly accelerated. Sequencing a human genome used to be a multimillion dollar project but is…
Cost-Effectiveness of Genetic Testing for Monogenic Diabetes
Abstract Diagnosing monogenic forms of diabetes provides an opportunity to deliver personalized genetic medicine. The most common monogenic causes of diabetes can be treated with therapeutic options targeted to genetic…
Setting Up a Laboratory
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…
Genetic Counseling: The Role of Genetic Counselors on Healthcare Provider and Endocrinology Teams
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…
Multiple Endocrine Neoplasia Type 1 (MEN1)
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…
Genetics of Polyglandular Failure
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…
Syndromes of Severe Insulin Resistance and/or Lipodystrophy
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…
Lipodystrophies
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…
