Fertility and reproductive outcomes in different forms of congenital adrenal hyperplasia M. Eda Ertorer, editor

Format:

Book

Contributor:

Ertorer, M. Eda, editor.

Language:

English

Subjects (All):

Adrenogenital syndrome.

Adrenogenital syndrome--Complications.

Adrenal Hyperplasia, Congenital.

Medical Subjects:

Adrenal Hyperplasia, Congenital.

Physical Description:

1 online resource

Place of Publication:

Cham, Switzerland Springer 2021

System Details:

text file

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, et cetera 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

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

Classical Congenital Adrenal Hyperplasia (CAH) in Childhood and Adolescence: Diagnosis and Management for Future Reproductive Life

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

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

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

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

Reproductive Dysfunction in Classical and Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Notes:

Online resource; title from PDF title page (SpringerLink, viewed October 15, 2021)

Other Format:

Print version Fertility and reproductive outcomes in different forms of congenital adrenal hyperplasia

ISBN:

9783030825911

3030825914

OCLC:

1273075603

Access Restriction:

Restricted for use by site license