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.
