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Группа авторов. New Concepts for Human Disorders of Sexual Development
New Concepts for Human Disorders of Sexual Development
Contents
Preface
The European Disorder of Sex Development Registry: A Virtual Research Environment
Key Words
Abstract
The Creation of the Registry
Registry Users and Their Roles
Eligibility of Cases in Registry
Data Flow and Security
Description of Cases in Registry
Summary
Acknowledgements
References
Ontogenesis of Testis Development and Function in Humans
Key Words
Abstract
Introduction
The Primitive Gonad
Primordial Germ Cells
Somatic Cell Lineages in the Male Gonad
Sertoli Cells
Leydig Cells
Peritubular Cells
Sex Determination
Testicular Descent
Perinatal Events in Testicular Maturation
Prepubertal Maturation of the Testis
Pubertal Activation of the Testis
Spermatogenesis
Acknowledgements
References
New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)
Key Words
Abstract
Identification of Novel Genetic Factors by Comparative Genomic Hybridisation
Identification of Novel Genetic Factors Associated with DSD by Custom Array Sequencing
Identification of Novel Genetic Factors by Next Generation Sequencing
Acknowledgements
References
Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis
Key Words
Abstract
Introduction
Patients
Material and Methods. Array-CGH
RT-qPCR
Results
Discussion
Deletions
Duplications
Acknowledgements
References
Impact of Molecular Genetics on Congenital Adrenal Hyperplasia Management
Key Words
Abstract
Introduction
The Molecular Genetic Basis of the Disease
Advances in Molecular Genetic Testing for CYP21A2 Gene Mutations. Gene Deletions and Large Conversions
Common and Rare Point Mutations
Prediction of Phenotype
Impact on Management
Complications in the Genetic Counselling of 21-hydroxylase Deficiency
Impact on Management
Contribution of Molecular Genetics in CAH Neonatal Screening Programmes
Impact on Management
Prenatal Diagnosis and Treatment in Families at Risk for 21-Hydroxylase Deficiency. Prenatal Diagnosis
Prenatal Treatment
Impact and Perspectives on Management
Genes Other than CYP21A2 Whose Function or Dysfunction May Influence 21-Hydroxylase Activity
Impact and Perspectives on Management
Gene Therapy
Conclusions
References
Klinefelter’s Syndrome: A Clinical and Therapeutical Update
Key Words
Abstract
Introduction
Pathogenesis
The Clinical Phenotype
Sexual Function
The Cognitive Phenotype
Fertility
Morbidity and Mortality
The XX Male Syndrome
Treatment
Conclusion
Acknowledgements
References
Tumor Risk in Disorders of Sex Development
Key Words
Abstract
Introduction
Gonadal Tumors in DSD Patients
Normal Gonadal and Germ Cell Development
Pathogenesis of Germ Cell Tumors in DSD
The Risk for GCT Development Varies among Different Disorders
How to Identify a Gonad at Risk for Development of Malignancy? The Role of OCT3/4, TSPY and SCF
Looking towards the Future
Acknowledgements
References
Bone Health in Disorders of Sex Differentiation
Key Words
Abstract
Effect of Sex Steroids on Bone Growth: An Overview
Human Disorders Supporting the Role of Sex Steroids in Bone Growth, Bone Maturation and Accrual of Bone Mass
46, XY DSD: Bone Health in Disorders of Androgen Biosynthesis and Action
46, XX DSD: Bone Health in CAH
Sex Chromosome DSD: Bone Health in TS
Conclusions
References
A Study of Gender Outcome of Egyptian Patients with 46,XY Disorder of Sex Development
Key Words
Abstract
Introduction
Patients and Methods
Results
Discussion
Acknowledgement
References
Management of Vaginal Hypoplasia in Disorders of Sexual Development: Surgical and Non-Surgical Options
Key Words
Abstract
Introduction
Indications for Surgery
Surgery for Ambiguous Genitalia
Surgery in the Adolescent and Adult
Vaginal Dilation
Surgical Techniques
Intestinal Vaginoplasty
Surgical Traction Techniques. The Vecchietti Procedure
Balloon Vaginoplasty
Peritoneal Flap
Amnion Graft
Skin Flaps
Skin Grafts
Autografts
Discussion
Conclusions
References
Ethical Guidelines for the Clinical Management of Intersex
Key Words
Abstract
Change in Values in Intersex Treatment
Ethical Principles of Clinical Practice
Basic Ethical Guidelines for Clinical Practice
References
Disclosing Disorders of Sex Development and Opening the Doors
Key Words
Abstract
Introduction
Concealment
Making Sense of Past Secrecy: A Tale of Two Women
Eloise
Integration versus Fragmentation
A New Chapter
Emotional Barriers
The Importance of Team Development
Conclusions
Acknowledgement
References
Importance of Support Groups for Intersex (Disorders of Sex Development) Patients, Families and the Medical Profession
Key Words
Abstract
Introduction
Peer Support
Promoting Improved Care
Symposia
Research Collaboration
Information Provision
Increasing Awareness
Conclusion
References
