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.

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: 11beta-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: 17beta-Hydroxysteroid Dehydrogenase Deficiency
Chapter 11: Steroid 5 -Reductase Deficiency
Chapter 12: 11beta-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.