Igaz P., Patocs A. (Eds.) Genetics of Endocrine Diseases and Syndromes

Springer, 2019. — 476 p. — (Experientia Supplementum 111). — ISBN: 978-3-030-25904-4.This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling.
Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases.
A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.Basic Concepts of Genetics
Brief Description of Inheritance Patterns
Family Screening and Genetic Counseling
Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generation Sequencing, etc.)
Syndromes of Resistance to Thyroid Hormone Action
Glucocorticoid Resistance
Overview of Genetically Determined Diseases/Multiple Endocrine Neoplasia Syndromes Predisposing to Endocrine Tumors
Hereditary Diseases Predisposing to Pheochromocytoma (VHL, NF-1, Paraganglioma Syndromes, and Novel Genes)
Diseases Predisposing to Adrenocortical Malignancy (Li–Fraumeni Syndrome, Beckwith–Wiedemann Syndrome, and Carney Complex)
Genetics of Pituitary Tumours
Timeline of Advances in Genetics of Primary Aldosteronism
Congenital Adrenal Hyperplasia
Pituitary Transcription Factor Mutations Leading to Hypopituitarism
Hereditary Neurohypophyseal Diabetes Insipidus
Nephrogenic Diabetes Insipidus
Monogenic Forms of Male Infertility
Genetic Causes of Female Infertility
Monogenic Forms of Diabetes Mellitus
Genetics of Obesity
Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome)