Today's Hours: 8:00am - 6:00pm

Search

Filter Applied Clear All

Did You Mean:

Search Results

  • Book
    M. Eda Ertorer, editor.
    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.

    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 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 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 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 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
    Digital Access Springer 2021