| Description |
1 online resource |
| Contents |
Intro -- Preface -- Contents -- Congenital Adrenal Hyperplasia (CAH): Definition and Enzymatic Defects in Various Forms -- Introduction -- Enzymatic Defects in Various Forms -- 21-Hydroxylase Deficiency -- 11-Beta Hydroxylase Deficiency -- 17-Alpha Hydroxylase Deficiency -- 3-Beta Hydroxysteroid Dehydrogenase Deficiency -- P450 Oxidoreductase (POR) Deficiency -- Lipoid Congenital Adrenal Hyperplasia (StAR Deficiency) -- Side Chain Cleavage Enzyme Deficiency (P450scc) -- References |
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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Genetic Characterization and the Genotype-Phenotype Correlation -- Introduction -- The Structure of the CYP21A2 Gene -- The Origin of CYP21A2 Alterations -- CYP21A2 Genetic Modifications -- Large Deletions and Conversions -- Point Mutations and Small Deletions/Insertions -- Other Pathogenic Variants -- Polymorphisms -- Genotyping and Pregnancy -- Genotype-Phenotype Correlations -- Genetic Sequencing -- General Considerations -- DNA Sanger Sequencing -- MLPA -- Final Considerations -- References |
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Classical Congenital Adrenal Hyperplasia (CAH) in Childhood and Adolescence: Diagnosis and Management for Future Reproductive Life -- Introduction -- 21-Hydroxylase Deficiency -- General Features of Classical Congenital Adrenal Hyperplasia due to 21-OHd -- Diagnosis -- Genetic -- Treatment -- Steroid Treatment -- Additional Treatment Regimen to Glucocorticoids -- 11-Beta Hydroxylase (CYP11B1) Deficiency -- Diagnosis -- Treatment -- Gender Determination and Surgical Treatment -- The Aims of Surgical Intervention in Virilized Females |
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The Effects of Contemporary CAH Treatment in Childhood on Future Reproductive Life -- References -- Diagnostic Challenges in Nonclassical Congenital Adrenal Hyperplasia -- Introduction -- Reasons to Diagnose NCAH -- Indications for the Screening of NCAH -- Current Challenges with Diagnostic Methods and Assays -- Serum 17-OHP Concentrations -- Molecular Genetic Analysis of CYP21A2 -- Adrenal Steroid Profiles -- Conclusions -- References -- Mechanisms of Reproductive Dysfunction in Classical and Nonclassical Congenital Adrenal Hyperplasia: From an Endocrinologist's Perspective -- Introduction |
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21-Hydroxylase Deficiency -- Female Patients with 21-Hydroxylase Deficiency: Fertility and Pregnancy -- Male Patients with 21-Hydroxylase Deficiency -- 11-Beta-Hydroxylase Deficiency -- 17-Alpha-Hydroxylase and 17,20-Lyase Deficiency -- Male Patients with 17-Alpha-Hydroxylase and 17,20-Lyase Deficiency -- 3-Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency -- P450 Oxidoreductase Deficiency -- Lipoid Congenital Adrenal Hyperplasia -- Conclusion -- References -- Reproductive Dysfunction in Classical and Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency -- Introduction |
| Summary |
This book covers all forms of Congenital Adrenal Hyperplasia (CAH) and provides a comprehensive overview of accompanying reproductive problems. Affected individuals may exhibit low fecundability, infertility, recurrent miscarriages, painful sexual intercourse, sexual orientation changes, etc. If not diagnosed and treated properly, their children may also experience developmental disorders of the external genitalia. Depending on the defects in enzymes, severity of the mutations and residual enzymatic activities, the clinical presentation may differ from patient to patient. As these disorders are encountered relatively rarely, many cases are either undiagnosed or inappropriately treated. Given its scope, this book offers a valuable guide for gynecologists, endocrinologists, pediatricians, and professionals in reproductive medicine, as well as GPs, practicing physicians, medical students and residents |
| Notes |
Online resource; title from PDF title page (SpringerLink, viewed October 15, 2021) |
| Subject |
Adrenogenital syndrome.
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Adrenogenital syndrome -- Complications
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Adrenal Hyperplasia, Congenital
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Adrenogenital syndrome
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Hiperplàsia suprarenal congènita.
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Esterilitat.
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Fecunditat humana.
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| Genre/Form |
Llibres electrònics.
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| Form |
Electronic book
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| Author |
Ertorer, M. Eda, editor
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| ISBN |
9783030825911 |
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3030825914 |
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