Disorders of Steroidogenesis

Only text for steroid profile interpretation Contains graphic representations and illustrations Utilises unique reference data collected over 30 years of clinical practice

Autorentext

Dr. Gill RumsbyBTech, 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.

Inhalt

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.