附註:Includes bibliographical references and index.
Foreword / Savage, M.O. -- Preface / Hughes, I.A.; Clark, A.J.L. -- SF-1 and DAX-1 in Adrenal Development and Pathology / Achermann, J.C.; Jeffs, B.; Jameson, J.L. -- Defects of Adrenocorticotropin Action on the Adrenal / Franklin, J.L. [and others] -- Proteins Involved in Mitochondrial Cholesterol Transport / Stocco, D.M.; Reinhart, A.J.; Miller, W.L. -- Biochemistry and Genetics of Human P450c17 / Miller, W.L.; Auchus, R.J. -- 21-Hydroxylase Deficiency Defects and Their Phenotype / Acerini, C.L.; Hughes, I.A. -- Defects in Aldosterone Biosynthesis / Peter, M.; Sippell, W.G. -- X-Linked Adrenoleukodystrophy / Gartner, J. -- Cushing Syndrome and Addison Disease / Stratakis, C.A.
摘要:Adrenal disease in children poses an immensely difficult diagnostic and management problem for the paediatrician in view of the large number of rare pathologies that may present in this way. This volume brings together the expertise of the acknowledged leaders in specific adrenal disorders to provide a readily accessible text that combines a detailed description of the molecular origins of these diseases, as they are currently understood, with a unique account of the clinical features and therapeutic options. Beginning with disorders that primarily affect adrenal development and progressing towards the defects that interfere with steroid production, the reader gains considerable insight into the normal physiology of the adrenal cortex particularly as revealed by clinical disorders. The major contributions of modern biochemistry and molecular genetics in our current understanding are visible throughout, providing a unique overview of adrenocortical biology. This book is of great interest to general pediatricians, paediatric endocrinologists, adult endocrinologists, clinical geneticists and basic scientists working in areas such as developmental biology and molecular steroidogenesis.
