Genetics of Endocrine Diseases and Syndromes

  • Peter Igaz
  • Attila Patócs

Part of the Experientia Supplementum book series (EXS, volume 111)

Table of contents

  1. Front Matter
    Pages i-xix
  2. Basics of Genetics

    1. Front Matter
      Pages 1-1
    2. Pál Perge, Peter Igaz
      Pages 3-19
    3. Annamária Kövesdi, Attila Patócs
      Pages 21-27
    4. Pál Perge, Peter Igaz
      Pages 29-32
  3. Endocrine Diseases Inherited as Monogenic Traits: Hormone Resistance Syndromes

    1. Front Matter
      Pages 53-53
    2. Luca Persani, Irene Campi
      Pages 55-84
    3. Nicolas C. Nicolaides, Evangelia Charmandari
      Pages 85-102
  4. Endocrine Diseases Inherited as Monogenic Traits: Hereditary Diseases Predisposing to Endocrine Tumors

    1. Front Matter
      Pages 103-103
    2. Paul Benjamin Loughrey, Márta Korbonits
      Pages 171-211
    3. Lucie S. Meyer, Martin Reincke, Tracy Ann Williams
      Pages 213-243
    4. Dóra Török
      Pages 245-260
  5. Endocrine Diseases Inherited as Monogenic Traits: Monogenic Diseases Predisposing to Hormone Deficiency, Infertility and Diabetes Mellitus

    1. Front Matter
      Pages 261-261
    2. Jonas Rutishauser, Nicole Beuret, Cristina Prescianotto-Baschong, Martin Spiess
      Pages 299-315
    3. András Balla, László Hunyady
      Pages 317-339
    4. Csilla Krausz, Antoni Riera-Escamilla
      Pages 341-366
    5. Artur Beke
      Pages 367-383
    6. Zsolt Gaál, István Balogh
      Pages 385-416
  6. Example of a Multifactorial Disease and Chromosomal Alterations in Endocrine Diseases

    1. Front Matter
      Pages 417-417
    2. Lotte Kleinendorst, Mieke M. van Haelst, Erica L. T. van den Akker
      Pages 419-441

About this book


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.


endocrinology genetics epigenetics monogenic diseases genotype-phenotype interactions

Editors and affiliations

  • Peter Igaz
    • 1
  • Attila Patócs
    • 2
  1. 1.2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis UniversityMTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis UniversityBudapestHungary
  2. 2.Department of Laboratory Medicine, Faculty of Medicine, Semmelweis University“Lendület” Hereditary Endocrine Tumors Research Group, Hungarian Academy of Sciences and Semmelweis University, Department of Molecular Genetics, National Institute of OncologyBudapestHungary

Bibliographic information

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