Today's Hours: 8:00am - 10:00pm


Filter Applied Clear All

Did You Mean:

Search Results

  • Book
    Andrea 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.

    1: Introduction: From a Disabling Condition to a Variant of Normalcy
    2: Epidemiology of an Underdiagnosed Syndrome
    2.1 Difficulties in Prevalence Estimation
    2.2 Prevalence of Klinefelter Syndrome
    2.3 Conclusions
    3: Causes of Extra Chromosome(s)
    3.1 Mechanism of the Supernumerary X Chromosome
    4: Different Karyotypes, Same Disease?
    4.1 48,XXYY
    4.2 48,XXXY
    4.3 49,XXXXY
    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
    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
    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
    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
    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
    10: Klinefelter Syndrome: From a Disabling Condition to a Variant of Normalcy: Neuropsychiatric Aspects
    11: Testicular Development
    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
    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
    14: Phenotype of the Adulthood
    14.1 Introduction
    Digital Access Springer 2020