Genetics of Endocrine Diseases and Syndromes (Experientia Supplementum, 111)

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. Front Matter ....Pages i-xix Front Matter ....Pages 1-1 Basic Concepts of Genetics (Pál Perge, Peter Igaz)....Pages 3-19 Brief Description of Inheritance Patterns (Annamária Kövesdi, Attila Patócs)....Pages 21-27 Family Screening and Genetic Counseling (Pál Perge, Peter Igaz)....Pages 29-32 Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generation Sequencing, etc.) (Henriett Butz, Attila Patócs)....Pages 33-52 Front Matter ....Pages 53-53 Syndromes of Resistance to Thyroid Hormone Action (Luca Persani, Irene Campi)....Pages 55-84 Glucocorticoid Resistance (Nicolas C. Nicolaides, Evangelia Charmandari)....Pages 85-102 Front Matter ....Pages 103-103 Overview of Genetically Determined Diseases/Multiple Endocrine Neoplasia Syndromes Predisposing to Endocrine Tumors (Abel Decmann, Attila Patócs, Peter Igaz)....Pages 105-127 Hereditary Diseases Predisposing to Pheochromocytoma (VHL, NF-1, Paraganglioma Syndromes, and Novel Genes) (Balázs Sarkadi, Attila Patócs)....Pages 129-147 Diseases Predisposing to Adrenocortical Malignancy (Li–Fraumeni Syndrome, Beckwith–Wiedemann Syndrome, and Carney Complex) (Anne Jouinot, Jérôme Bertherat)....Pages 149-169 Genetics of Pituitary Tumours (Paul Benjamin Loughrey, Márta Korbonits)....Pages 171-211 Timeline of Advances in Genetics of Primary Aldosteronism (Lucie S. Meyer, Martin Reincke, Tracy Ann Williams)....Pages 213-243 Congenital Adrenal Hyperplasia (Dóra Török)....Pages 245-260 Front Matter ....Pages 261-261 Pituitary Transcription Factor Mutations Leading to Hypopituitarism (Peter Gergics)....Pages 263-298 Hereditary Neurohypophyseal Diabetes Insipidus (Jonas Rutishauser, Nicole Beuret, Cristina Prescianotto-Baschong, Martin Spiess)....Pages 299-315 Nephrogenic Diabetes Insipidus (András Balla, László Hunyady)....Pages 317-339 Monogenic Forms of Male Infertility (Csilla Krausz, Antoni Riera-Escamilla)....Pages 341-366 Genetic Causes of Female Infertility (Artur Beke)....Pages 367-383 Monogenic Forms of Diabetes Mellitus (Zsolt Gaál, István Balogh)....Pages 385-416 Front Matter ....Pages 417-417 Genetics of Obesity (Lotte Kleinendorst, Mieke M. van Haelst, Erica L. T. van den Akker)....Pages 419-441 Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome) (Irén Haltrich)....Pages 443-473