UID:
almafu_9959076714102883
Format:
1 online resource (225 p.)
ISBN:
1-283-15388-2
,
9786613153883
,
3-8055-9644-8
Series Statement:
Endocrine development, v. 20
Content:
Written by experts and specialized investigators, this book presents a detailed overview of the recent progress in our understanding of the adrenal cortex and its pivotal roles in homeostasis. Genes, molecules and cell compartments directly or indirectly involved in the complex steroidogenesis pathway as well as the resulting end-hormones glucocorticoids, mineralocorticoids and androgens are analyzed. Furthermore, the defects of the genes responsible both for common and rare adrenal disorders are presented. The interactions of the adrenal cortices with the adrenal medulla and their importance in the integration of adrenocortical and adrenomedullary function are discussed. The complex molecular pathophysiology of congenital adrenal hyperplasia is presented; long-term effects of the disorder and the still controversial antenatal therapy are examined. Finally, expert review chapters discuss autoimmune Addison disease and the adrenoleukodystrophy/adrenomyeloneuropathy syndrome. Presenting novel research findings in adrenal gland physiology and pathophysiology, this book is a useful tool not only for pediatric endocrinologists, but also for clinicians and researchers studying human development, organogenesis, mitochondrial biology, nuclear receptors, stress biology and pharmacology.
Note:
Description based upon print version of record.
,
""Cover""; ""Contents""; ""Preface""; ""Role of Mitochondria in Steroidogenesis""; ""Abstract""; ""The Cellular Cholesterol Economy""; ""Cytochrome P450""; ""Mitochondrial Specificity of the Cholesterol Side- Chain Cleavage Reaction""; ""Acute versus Chronic Regulation of Steroidogenesis""; ""Steroidogenic Acute Regulatory Protein""; ""StAR Structure and Mechanism of Action""; ""Disorders of StAR: Classic and Non- Classic Congenital Lipoid Adrenal Hyperplasia""; ""P450scc Deficiency: A Rare New Disease""; ""References""; ""The Physiology and Biochemistry of Adrenarche""; ""Abstract""
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""What Is Adrenarche?""""Biochemistry and Enzymology of Adrenarche""; ""What Is the Purpose of Adrenarche?""; ""Conclusions and Future Directions""; ""References""; ""Update on the Corticomedullary Interaction in the Adrenal Gland""; ""Abstract""; ""Evidence from in vitro Studies""; ""Evidence from Animal Models""; ""Evidence from Clinical Observations""; ""Conclusion""; ""Acknowledgement""; ""References""; ""Role of DAX- 1 (NR0B1) and Steroidogenic Factor- 1 (NR5A1) in Human Adrenal Function""; ""Abstract""; ""DAX- 1 (NR0B1)""; ""Steroidogenic Factor- 1 (NR5A1)""; ""Acknowledgements""
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""References""""Functional and Physiological Consequences of StAR Deficiency: Role in Lipoid Congenital Adrenal Hyperplasia""; ""Abstract""; ""StAR and Congenital Lipoid Adrenal Hyperplasia""; ""How StAR Stimulates Steroidogenesis""; ""Pathogenesis of Lipoid CAH due to StAR Deficiency""; ""Variabilities in Lipoid CAH Presentation""; ""Conclusions""; ""References""; ""P450 Side- Chain Cleavage Deficiency � A Rare Cause of Congenital Adrenal Hyperplasia""; ""Abstract""; ""Biochemistry""; ""Molecular Genetics and Biology""; ""Clinical Findings in P450scc Deficiency""; ""Practical Summary""
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""References""""Clinical and Biochemical Consequences of P450 Oxidoreductase Deficiency""; ""Abstract""; ""Role of Cytochrome P450 Oxidoreductase in the Biochemistry of Electron Transfer""; ""Cytochrome P450s � Partners of POR""; ""Impact of POR Deficiency on Steroidogenesis""; ""Human POR Mutations: From Phenotype to Genotype""; ""Structure and Function Testing of POR Variants in vitro and in silico""; ""POR and Skeletal Malformations""; ""Impact of POR on Drug- Metabolizing P450s""; ""Conclusions and Perspectives""; ""Acknowledgement""; ""References""
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""Molecular Genetics of 21- Hydroxylase Deficiency""""Abstract""; ""The CYP21A2 Gene and the RCCX Module""; ""Mutations Causing 21- OHD""; ""Genotype Phenotype Relationships""; ""Molecular Genetic Diagnosis of 21- OHD""; ""References""; ""Brain Development and Cognitive, Psychosocial, and Psychiatric Functioning in Classical 21- Hydroxylase Deficiency""; ""Abstract""; ""Gender Development in 46,XX 21- OHD CAH""; ""Genital Ambiguity, Genital Surgery, and Psychosexual Functioning""; ""Cognitive Development""; ""Psychiatric Development""; ""Notes on 46,XX CAH Raised Male""; ""Conclusions""
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""References""
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English
Additional Edition:
ISBN 3-8055-9643-X
Language:
English
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