Disorders of Steroidogenesis : Guide to Steroid Profiling and Biochemical Diagnosis / edited by Gill Rumsby, Gary M. Woodward.

Format:

Book

Contributor:

Rumsby, Gill, editor.

Woodward, Gary M., editor.

SpringerLink (Online service)

Series:

Medicine (Springer-11650)

Language:

English

Subjects (All):

Endocrinology.

Pathology.

Urology.

Local Subjects:

Endocrinology.

Pathology.

Urology.

Physical Description:

1 online resource (VIII, 197 pages) : 135 illustrations, 95 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 covers the subject of steroid profiling for the diagnosis of disorders of steroidogenesis. Each chapter provides at least one case study for each of the listed disorders in order to illustrate the subtle and nuanced details required for the diagnosis of these conditions. General information is also given about the biology of these disorders and explanations of typical laboratory findings are provided. This book describes the steroid profile features and its interpretation, in addition to describing the pathophysiology, clinical indications for investigation, general endocrine investigations and genetic considerations for each of the congenital and acquired conditions. A valuable tool for day-to-day clinical and laboratory investigations of adrenal pathologies and disorders of steroidogenesis, as well as providing impetus to further study.

Contents:

Chapter 1: Overview of Adrenal Physiology and Steroid Biochemistry

Chapter 2: Overview of Adrenocortical Pathophysiology

Chapter 3: Steroid Profiling - Analytical Perspectives

Chapter 4: 21-Hydroxylase Deficiency

Chapter 5: 11β-Hydroxylase deficiency

Chapter 6: 3b-Hydroxysteroid Dehydrogenase/isomerase Deficiency

Chapter 7: 17a-Hydroxylase Deficiency

Chapter 8: Early defects of Steroidogenesis: Steroidogenic acute regulatory protein and cholesterol 20-22 lyase deficiency

Chapter 9: Aldosterone Synthase Deficiency

Chapter 10: 17β-Hydroxysteroid Dehydrogenase Deficiency

Chapter 11: Steroid 5 α-Reductase Deficiency

Chapter 12: 11β-Hydroxysteroid Dehydrogenase Deficiency

Chapter 13: Steroid Sulphotransferase and Sulphatase Deficiency

Chapter 14: Cholesterol Synthesis Defects

Chapter 15: Steroid Producing Tumours

Chapter 16: Cushing's syndrome

Chapter 17: Adrenal insufficiency

Appendix 1. Common Steroid Identification - GC-MS Mass Spectra.

Other Format:

Printed edition:

ISBN:

978-3-319-96364-8

9783319963648

Access Restriction:

Restricted for use by site license.