The rapid advances in medicine over the last 50 years have totally changed the outlook for children with disorders of sex development (DSD), but there is still much to learn. This book crystallizes the combined experience of a leading dedicated unit over 25 years in delivering expert medical and surgical care to children with DSD in a holistic environment. It documents the most recent advances in the molecular biology and embryology of sex development, and describes each disorder in detail. The clinical presentation and approach to diagnosis are described both for babies and for children presenting later in childhood or at adolescence. The chapters on management highlight all the latest knowledge and include the shared wisdom of the authors on current controversies, such as the timing of surgical treatment. Finally, the authors describe their short-, medium-, and long-term outcomes, which demonstrate the strengths of holistic team management.
สารบัญ
The molecular basis of gonadal development and disorders of sex development.- Embryology of the human genital tract.- The hormones regulating sex development.- Questions about gender – children with atypical gender development.- Abnormal embryology in DSD.- 46XX Disorders of Sex Development.- 46, XY DSD.- Mixed Sex chromosome (aneuploidy) and ovo-testicular DSD.- Non-hormone DSD.- Multiple malformation syndromes in DSD.- The neonatate with ambiguous genitalia.- DSD later in childhood.- The adolescent or young adult with DSD.- Imaging in DSD.- Ethical principles for the management of infants with DSD. The medical management of DSD.- Surgical treatment in infancy.- Laparoscopy for DSD.- The family.- Genetic Counselling.- Cultural differences and controversies about timing of management.- Medical management of adolescents and young adults.- Gynaecological management.- Psychological Management in Adolescence and Beyond.- Short, medium and long-term outcomes following surgery for DSD at Royal Children’s Hospital.- Long-term outcome of DSD: a world view.- Complete Androgen Insensitivity Syndrome (A guide for parents and patients).
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