BookM. 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