Genetic diagnosis of endocrine disorders

Mechanisms of mutation -- A clinical guide to monogenic diabetes -- Hypoglycemia -- Functioning pituitary adenomas -- Diabetes insipidus -- States of pituitary hypofunction -- Congenital defects of thyroid hormone synthesis -- Developmental abnormalities of the thyroid -- Syndromes of impaired sensitivity to thyroid hormone -- Molecular diagnosis of thyroid cancer -- Genetics of hyperparathyroidism including parathyroid cancer -- Genetic diagnosis of skeletal dysplasias -- Vitamin d disorders -- Congenital adrenal hyperplasia -- Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes -- Hereditary syndromes involving pheochromocytoma and paraganglioma -- Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance -- Genetic considerations in the evaluation of menstrual cycle irregularities -- Disorders of sex development -- Androgen insensitivity due to mutations of the androgen receptor -- Obesity -- Syndromes of severe insulin resistance and/or lipodystrophy -- Lipodystrophies -- Multiple endocrine neoplasia type 1 (MEN1) -- Genetics of polyglandular failure -- Genetic diagnosis of growth failure -- Cost-effectiveness of genetic testing for monogenic diabetes -- Genetic counseling: the role of genetic counselors on healthcare provider and endocrinology teams -- Setting up a laboratory -- Introduction to applications of genomic sequencing.

Genetic diagnosis of endocrine disorders, Second edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias.