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  • Book
    edited by Roy E. Weiss, Samuel Refetoff.
    Contents:
    Mechanisms of mutation
    Pancreas - Genetic testing in diabetes mellitus: a clinical guide to monogenic diabetes
    Obesity
    Syndromes of severe insulin resistance and/or lipodystrophy
    Pituitary
    Functioning pituitary adenomas
    Diabetes insipidus
    States of pituitary hypofunction
    Thyroid
    Congenital defects of thyroid hormone synthesis
    Developmental abnormalities of the thyroid
    Syndromes of reduced sensitivity to thyroid hormone
    Molecular genetics of thyroid cancer: pathogenetic significance and clinical applications
    Parathyroid and bone
    Genetics of hyperparathyroidism including parathyroid cancer
    Genetic diagnosis of skeletal dysplasias
    Vitamin D disorders
    Adrenal
    Congenital adrenal hyperplasia
    Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes
    Hereditary pheochromocytoma and multiple endocrine neoplasia type 2 (MEN2)
    Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance
    Reproductive
    Genetic considerations in the evaluation of menstrual cycle irregularities
    Genetic diagnosis of hypogonadotropic hypogonadism and Kallmann syndrome
    Disorders of sex development
    Genetic defects of androgen resistance
    Multisystem disorders
    Multiple endocrine neoplasia type 1 (MEN1)
    Genetics of polyglandular failure
    Growth
    Genetic diagnosis of growth failure
    Counseling and laboratory
    Genetic counseling
    Setting up a laboratory.
    Digital Access ScienceDirect 2010