Genetics of Endocrine Diseases and Syndromes / edited by Peter Igaz, Attila Patócs.

Format:

Book

Contributor:

Igaz, Peter, editor.

Patocs, Attila, 1973- editor.

SpringerLink (Online service)

Series:

Biomedical and Life Sciences (Springer-11642)

Experientia. Supplementum 1664-431X ; 111.

Experientia Supplementum, 1664-431X ; 111

Language:

English

Subjects (All):

Molecular biology.

Human genetics.

Molecular Medicine.

Human Genetics.

Local Subjects:

Molecular Medicine.

Human Genetics.

Physical Description:

1 online resource (XIX, 473 pages) : 72 illustrations, 51 illustrations in color.

Edition:

First edition 2019.

Contained In:

Springer eBooks

Place of Publication:

Cham : Springer International Publishing : Imprint: Springer, 2019.

System Details:

text file PDF

Summary:

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.

Contents:

Part 1: Basics of Genetics

Chapter 1. Basic concepts ofgenetics

Chapter 2. Brief description of inheritance patterns

Chapter 3. Family screening and genetic counseling

Chapter 4. Brief summary of the most important molecular genetic methods (PCR, qPCR, microarray, next generation sequencing et cetera)

Part 2: Endocrine diseases inherited as monogenic traits: Alterations of hormones and hormone receptors

Chapter 5. Syndromes of resistance to thyroid hormone action

Chapter 6. Glucocorticoid resistance.-Part 3: Endocrine diseases inherited as monogenic traits: Hereditary diseases predisposing to endocrine tumors

Chapter 7. Overview of genetically determined diseases/multiple endocrine neoplasia syndromes predisposing to endocrine tumors

Chapter 8. Hereditary diseases predisposing to pheochromocytoma (VHL, NF-1, paraganglioma syndromes and novel genes)

Chapter 9. Diseases predisposing to adrenocortical malignancy (Li-Fraumeni syndrome, Beckwith-Wiedemann-syndrome, Carney-complex)

Chapter 10. Genetics of pituitary tumors

Chapter 11. Timeline of advances in genetics of primary aldosteronism

Chapter 12. Congenital adrenal hyperplasia

Part 4: Endocrine diseases inherited as monogenic traits: Monogenic diseases predisposing to hormone deficiency, infertility and diabetes mellitus

Chapter 13. Pituitary transcription factor mutations leading to hypopituitarism

Chapter 14. Hereditary neurohypophyseal diabetes insipidus

Chapter 15. Nephrogenic diabetes insipidus

Chapter 16. Monogenic forms of male infertility (including androgen resistance)

Chapter 17. Genetic causes of female infertility

Chapter 18. Monogenicforms of diabetes mellitus

Part 5: Example of a multifactorial disease and chromosomal alterations in endocrine diseases

Chapter 19. Genetics of obesity

Chapter 20. Chromosomal aberrations with endocrine relevance (Turner-syndrome, Klinefelter-syndrome, Prader-Willi syndrome).

Other Format:

Printed edition:

ISBN:

978-3-030-25905-1

9783030259051

Access Restriction:

Restricted for use by site license.