Bookedited by Roy E. Weiss, Samuel Refetoff.
Contents:
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.