Disorders of Sex Development
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1 Disorders of Sex Development An Integrated Approach to Management Bearbeitet von, Garry L. Warne, Sonia R. Grover 1. Auflage Buch. XV, 311 S. Hardcover ISBN Format (B x L): 0 x 0 cm Weitere Fachgebiete > Medizin > Klinische und Innere Medizin > Pädiatrie, Neonatologie schnell und portofrei erhältlich bei Die Online-Fachbuchhandlung beck-shop.de ist spezialisiert auf Fachbücher, insbesondere Recht, Steuern und Wirtschaft. Im Sortiment finden Sie alle Medien (Bücher, Zeitschriften, CDs, ebooks, etc.) aller Verlage. Ergänzt wird das Programm durch Services wie Neuerscheinungsdienst oder Zusammenstellungen von Büchern zu Sonderpreisen. Der Shop führt mehr als 8 Millionen Produkte.
2 Contents 1 The Molecular Basis of Gonadal Development and Disorders of Sex Development... 1 Stefan White and Andrew Sinclair 1.1 Testis Development Ovarian Development Conclusion... 7 References Embryology of the Human Genital Tract The Urogenital Ridge Sexual Differentiation External Genitalia Gonadal Descent References The Hormones Regulating Sex Development Introduction Testicular Hormones Ovarian Hormones The Placenta The Foetal Hypothalamic-Pituitary Axis Post-Natal Hormone Levels and Implications References Questions About Gender: Children with Atypical Gender Development Louise Newman 4.1 Introduction Concepts of Sex and Gender Clinical Presentations Diagnostic Classification Theories of Atypical Gender Development Assessment Issues Intervention Issues Puberty-Blocking Hormones References ix
3 x Contents 5 Abnormal Embryology in DSD Failed Sex Determination ,XY Complete Gonadal Dysgenesis (Swyer Syndrome) Failure of Testicular Differentiation Anatomy of Caudal Internal Ducts in DSD Placental Failure Failure of the Hypothalamic-Pituitary-Gonadal Axis Failure of Hormone Action Anormal Morphogenesis of the Genitalia (See Also Chap. 9) References ,XX Disorders of Sex Development Garry L. Warne and Jacqueline K. Hewitt 6.1 Clinical Presentations of Patients with 46,XX DSD Congenital Adrenal Hyperplasia Steroidogenic Factor-1 Deficiency ,XX Gonadal Dysgenesis Müllerian Duct Agenesis ,XX Testicular DSD ,XX Ovo-Testicular DSD Cloacal Exstrophy and Bladder Exstrophy References ,XY DSD Jacqueline K. Hewitt and Garry L. Warne 7.1 Clinical Presentation Incidence Complications Genetic Counselling and Disclosure Undefined 46,XY DSD (Hypospadias and Cryptorchidism) ,XY Gonadal Dysgenesis Gonadotrophin Deficiency or Dysfunction Disorders of Androgen Biosynthesis Androgen Insensitivity Syndrome Persistent Müllerian Duct Syndrome DSD Due to Non-Hormonal Anatomical Defects Conclusion References Mixed Sex Chromosome and Ovo-Testicular DSD Jacqueline K. Hewitt and Garry L. Warne 8.1 Mixed Sex Chromosome DSD ,X/46,XY Mosaicism Ovo-Testicular DSD Klinefelter Syndrome 47,XXY Turner Syndrome Monosomy X References... 86
4 Contents xi 9 Non-hormonal DSD Introduction Internal Genitalia External Genitalia Lower Abdominal Wall Defects Perineal Anomalies Cloacal Maldevelopment References Multiple Malformation Syndromes in DSD Smith-Lemli-Opitz Syndrome (OMIM NO ) Denys-Drash Syndrome (OMIM NO ) Frasier Syndrome (OMIM NO ) Opitz Syndrome WAGR Syndrome (OMIM NO ) ATRX Syndrome (OMIM NO ) Frequency of Multiple Malformation Syndromes References The Neonate with Ambiguous Genitalia Introduction Diagnostic Rules and Clinical Significance Clinical Approach to a New Baby with Ambiguous Genitalia Investigations References DSD Later in Childhood and Garry L. Warne 12.1 Introduction Inguinal Hernia Cryptorchidism DSD Found at Laparoscopy DSD Found with Hypospadias DSD Found at Cystoscopy Precocious Puberty Telling a Girl About Her DSD Diagnosis (with CAIS in Mind) References The Adolescent or Young Adult with DSD , Garry L. Warne, and Sonia R. Grover 13.1 Introduction Phenotypic Females Males References
5 xii Contents 14 Imaging in DSD Murray Bartlett 14.1 Introduction Genitogram Ultrasonography Magnetic Resonance Imaging (MRI) Imaging in Girls During Late Childhood and Early Adolescence Conclusion References Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases Lynn Gillam, Jacqueline K. Hewitt, and Garry L. Warne 15.1 Introduction Methodology Proposed Ethical Principles for DSD Basis and Application of the Principles Using Ethical Principles in Clinical Practice Conclusion References The Medical Management of Disorders of Sex Development Garry L. Warne and Jacqueline K. Hewitt 16.1 Introduction Classification System Clinical Diagnosis and Approach Commonest Causes Summary of Management Concepts Gender Dysphoria in Relation to DSD Primary Gender-Identity Disorder World View Conclusion Future Perspective References Surgical Treatment in Infancy Introduction Feminising Genitoplasty Masculinising Genitoplasty Conclusion References Laparoscopy for DSD and Chris Kimber 18.1 Introduction Indications for Laparoscopy Diagnosis of Internal Genital Anatomy Biopsy/Excision of Intra-abdominal Gonads
6 Contents xiii 18.5 Excision of Internal Genital Ducts Procedures Problems/Pitfalls and Solutions Complications References The Family Elizabeth Loughlin 19.1 Background The Infant The Structured Interview The Audit Study Method Findings Discussion Issues for Families at Subsequent Counselling Implementation: Recommendations References Genetic Counselling David Amor 20.1 Introduction Overview of Genetic Counselling Reproductive Options Prenatal Diagnosis Pre-implantation Genetic Diagnosis (PGD) Genetic Testing Genetic Counselling for Specific DSDS References Cultural Differences and Controversies About Timing of Management Garry L. Warne and Vijaylakshmi Bhatia 21.1 Introduction Thoughts of a North Indian Paediatric Endocrinologist Observations on 29 DSD Patients in Hanoi, Vietnam A Long-Term Outcome Study of DSD in Melbourne, Australia Discussion References Medical Management of Adolescents and Young Adults , Garry L. Warne, and Sonia R. Grover 22.1 Introduction Existential Issues Medical Issues Holistic Care Through Adolescence Conclusions References
7 xiv Contents 23 Gynaecological Management Sonia R. Grover 23.1 Introduction Neonatal Period Childhood Adolescence Gonadal Surgery Conclusion References Psychological Management in Adolescence and Beyond Porpavai Kasiannan 24.1 Introduction Psychosocial and Psychosexual Issues in Adolescents and Adults with DSDS Psychological Issues in DSDS Psychosexual Issues in DSDs Psychological Management in Adolescents and Adults Future Research Focus Summary References Short-, Medium- and Long-Term Outcomes Following Surgery for Disorders of Sex Development (DSD) at Royal Children s Hospital , Garry L. Warne, and Sonia R. Grover 25.1 Introduction Short-Term Results Medium-Term Results Psychosocial and Psychosexual Outcomes in Young Adults References Long-Term Outcome of Disorders of Sex Development (DSD): A World View Garry L. Warne 26.1 Introduction ,XX DSD ,XX Ovo-Testicular DSD ,XX Testicular DSD ,XX Müllerian Agenesis Syndrome ,XY DSD ,XY Cloacal Exstrophy Sex Chromosome DSD Discussion References
8 Contents xv 27 Complete Androgen Insensitivity Syndrome: A Guide for Parents and Patients Garry L. Warne 27.1 Introduction How AIS Was First Recognised The Nature of AIS Hormones The Genetic Basis of AIS The Diagnosis of CAIS Hormonal Changes During Childhood and Adolescence Surgery for Girls with AIS Lack of Pubic and Underarm Hair Oestrogen Replacement Therapy Counselling and Support Additional Material Video Index
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