Rumsby Gill, Woodward Gary M. (eds.) Disorders of Steroidogenesis: Guide to Steroid Profiling and Biochemical Diagnosis

Springer, 2018. — 192 p. — ISBN: 978-3-319-96364-8This 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.Overview of Adrenal Physiology and Steroid Biochemistry
Overview of Adrenocortical Pathophysiology
Steroid Profiling: Analytical Perspectives
21-Hydroxylase Deficiency
11β-Hydroxylase Deficiency
3β-Hydroxysteroid Dehydrogenase/Isomerase Deficiency
17α-Hydroxylase Deficiency
Early Defects of Steroidogenesis: Steroidogenic Acute Regulatory Protein and Cholesterol 20-22 Lyase Deficiency
Aldosterone Synthase Deficiency
17β-Hydroxysteroid Dehydrogenase Deficiency
Steroid 5α-Reductase Deficiency
11β-Hydroxysteroid Dehydrogenase Deficiency
Steroid Sulphotransferase and Sulphatase Deficiency
Cholesterol Synthesis Defects
Steroid-Producing Tumours
Cushing’s Syndrome
Adrenal Insufficiency