BookAndrea Garolla, Giovanni Corono, editors.
Summary: This book presents the latest insights into all the critical aspects of Klinefelter's Syndrome, in order to promote a more homogeneous a medical approach to this condition, leading to better and more "evidence-based" support, and improving patient satisfaction. It offers physicians and all health professionals involved in treating these patients (andrologists, pediatricians, endocrinologists, psychologists) a comprehensive overview and a useful tool for their daily clinical practice.
Contents:
Intro
Preface
Contents
1: Introduction: From a Disabling Condition to a Variant of Normalcy
References
2: Epidemiology of an Underdiagnosed Syndrome
2.1 Difficulties in Prevalence Estimation
2.2 Prevalence of Klinefelter Syndrome
2.3 Conclusions
References
3: Causes of Extra Chromosome(s)
3.1 Mechanism of the Supernumerary X Chromosome
References
4: Different Karyotypes, Same Disease?
4.1 48,XXYY
4.2 48,XXXY
4.3 49,XXXXY
References
5: Genetic and Epigenetic Aspects of the Supernumerary X Chromosome 5.1 Maternal or Paternal Origin of the Suprannumerary X Chromosome
5.2 X Chromosome Inactivation and Gene Dosage
5.3 Genetic Aspects Related to the Androgen Receptor
5.4 Role of the Genes Belonging to Pseudoautosomal Regions (PAR)
5.5 X-Linked Copy Number Variations (CNVs) in the Klinefelter Syndrome
5.6 Involvement of Epigenetic Mechanisms
5.7 Aneuploidy and Cancer
References
6: Prenatal Counselling and Management in the Early Neonatal Period
6.1 Prenatal Diagnosis and Screening of Chromosome Variations
6.2 Need for Counselling and Good Communication 6.3 Pre- and Post-Test Session
6.4 Internet Challenge
6.5 Towards the Birth of the Child
References
7: Early Developmental Pathways and Communication Good Practices
7.1 Introduction
7.2 Motor Development and Neurological Aspects in KS
7.3 Communication and Language
7.4 Executive Function and Learning Disabilities
7.5 Behaviour and Emotional-Relational Aspects
7.6 How and When Communicating to the Child
References
8: The Diagnosis of Klinefelter Syndrome at Prepubertal Age
8.1 Introduction
8.2 Clinical Markers of KS
8.3 Hormones 8.4 hCG Test
8.5 Penis Length
8.6 Testicular Volume
8.7 Histology
8.8 Predictive Markers of Sperm Retrieval in Prepuberal and Peripubertal Age
References
9: The Pediatric Management of Klinefelter Syndrome: What to Do and When from Infancy to Puberty
9.1 Clinical Picture and Diagnosis at Different Ages
9.2 Pediatric Problems in KS Children and Their Monitoring
References
10: Klinefelter Syndrome: From a Disabling Condition to a Variant of Normalcy: Neuropsychiatric Aspects
References
11: Testicular Development
References
12: The Klinefelter Puberty 12.1 Epidemiology and Diagnosis
12.2 Phenotype
12.3 Androgen Development
12.4 Spermatogenesis
12.5 Body Composition
12.6 Bone Mass
12.7 Malignancies
12.8 Testosterone Supplementation
12.9 Conclusions
References
13: Genetic of Gametes
13.1 Background
13.2 Male Gametogenesis
13.2.1 Spermatogenesis Disruption in KS
13.3 Gene Expression Alterations in KS Testis
13.4 Epigenetics and KS
13.5 KS and ART
13.6 Conclusions
References
14: Phenotype of the Adulthood
14.1 Introduction