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Disorders of steroidogenesis : guide to steroid profiling and biochemical diagnosis

Author: Gill Rumsby; Gary M Woodward
Publisher: Cham, Switzerland : Springer, [2019]
Edition/Format:   eBook : Document : EnglishView all editions and formats
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  Read more...
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Genre/Form: Electronic books
Additional Physical Format: Print version:
(OCoLC)1041472390
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Gill Rumsby; Gary M Woodward
ISBN: 9783319963648 3319963643 9783319963655 3319963651 9783030071813 3030071812
OCLC Number: 1056910208
Notes: Includes index.
Description: 1 online resource (viii, 197 pages)
Contents: 1.3.4 Hydroxylation of Steroids1.3.5 Conjugation of Steroids; Further Reading; 2: Overview of Adrenocortical Pathophysiology; 2.1 Introduction; 2.2 Steroids and Their Homeostasis; 2.2.1 Aldosterone; 2.2.2 Cortisol; 2.2.3 Adrenal Androgens; 2.2.4 Exogenous Steroids; 2.3 Types of Pathology; 2.3.1 Adrenal Deficiency States; 2.3.1.1 Congenital Adrenal Hyperplasia; 2.3.1.2 Other Inherited Adrenal Diseases; 2.3.1.3 Pan-Adrenal Hypofunction; 2.3.2 Pathologies of Adrenal Steroid Hormone Excess; 2.3.2.1 Glucocorticoid Excess; 2.3.2.2 Mineralocorticoid Excess. 2.3.2.3 Adrenal Androgen Excess2.3.2.4 Adrenal Adenoma, Incidentaloma and Adrenocortical Carcinoma; Further Reading; Adrenal Pathophysiology; 3: Steroid Profiling: Analytical Perspectives; 3.1 Introduction; 3.2 Isolation of the Steroids; 3.3 Hydrolysis of Conjugates; 3.4 Derivatisation; 3.5 Gas Chromatography/Mass Spectrometry (GC/MS); 3.6 Urine Steroid Profile (USP) Interpretation; 3.7 Changes in the Profile with Age; 3.7.1 Pregnancy and the Menstrual Cycle; 3.7.2 Liver Disease; 3.7.3 Reference Ranges; Further Reading; Derivation of Mass Spectra; Historical Context. 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: 11?-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: 17?-Hydroxysteroid Dehydrogenase Deficiency --
Chapter 11: Steroid 5?-Reductase Deficiency --
Chapter 12: 11?-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.
Responsibility: Gill Rumsby, Gary M. Woodward, editors.

Abstract:

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.

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