Disorders of Steroidogenesis. Guide to Steroid Profiling and Biochemical Diagnosis

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

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.

Dr. Gill Rumsby BTech, MSc, PhD, CSci, FRCPath, EuroClinChem, is the Clinical Lead and Consultant Clinical Biochemist at the Department of Clinical Biochemistry, University College London Hospitals.

Dr. Gary M Woodward BSc (hons), PhD, MSc, MRCPath, is a Principal Clinical Biochemist and Honorary Lecturer at the Department of Clinical Biochemistry, University College London Hospitals.