The new, fully updated edition of this successful book, brings together the combined experience of a leading dedicated unit over 25 years in delivering expert medical and surgical care to children with DSD (Disorders|Differences of Sex Development) in a holistic environment. It documents the most recent advances in the molecular biology and embryology of sex development, and describes each variation in detail. The main focus of the book is on patients with variations with their anatomy and hormone function. New chapters describe the developments in the field in terms of definitions and incidence, the mental health of DSD patients and discuss the perspectives of patients families and support groups.
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.
Innehållsförteckning
Current debate about definitions and the incidence of DSD ( Disorders of Sex Development) .- The Molecular Basis of Gonadal Development and DSD .-Embryology of the Human Genital Tract.- Hormones Regulating Sex Development.- Questions About Gender: Children with Atypical.-Abnormal Embryology in DSD.- 46, XX DSD.- 46, XY DSD.- Mixed Sex Chromosome and Ovo-Testicular DSD.- Non-hormonal DSD.- Multiple Malformation Syndromes in DSD .- The Neonate with Ambiguous Genitalia.- DSD Later in Childhood .- The Adolescent or Young Adult with DSD .- Imaging in DSD.- Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases.- The Medical Management of DSD.- Surgical Treatment in Infancy.- Laparoscopy for DSD.- The Family.- Genetic Counselling.- Cultural Differences and Controversies about Timing of Management.- A Long-Term Outcome Study of DSD in Melbourne.- 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.- Psychosocial issues and mental health in DSD patients.- Complete Androgen Insensitivity Syndrome: A Guide for Parents and Patients.- Perspectives of patients, families and support groups.- Additional Material .-Video .-Index.
Om författaren
Professor John Hutson is the Chair of Paediatric Surgery at the University of Melbourne, and one of the consultant Paediatric Urologists at The Royal Children’s Hospital and Joint Group Leader for the Surgical Research Group at Murdoch Childrens Research Institute.
Professor Hutson has three doctorates (MD, UMelb; MD, Monash, DSc, UMelb) in the area of sexual development and has studied mechanism of testicular descent for many years. He has developed special expertise and interest in understanding the causes (and new treatments for) intractable constipation in children. He is the author of numerous papers and books for teaching medical students, as well as monographs on testicular descent, kidney and urogenital malformations and disorders of sex development.
Professor Sonia Grover is Director of the Department of Gynaecology at RCH. She is a member of the multidisciplinary team at RCH providing care for patients with disorders|differences of sexual development. Prof Grover has been involved in research, teaching, supervision of research students and publishing which has included work on longterm outcomes of women with DSDs, MRKH and CAH and those who have had genitoplasties. Her work also involves supporting the development of adolescent gynaecology services around Australia and overseas, and in her role in the International Federation of Paediatric and Adolescent Gynaecology(FIGIJ).
Dr. Michele O’Conell completed her Paediatric training in Ireland before moving to Australia in 2005 to train in Paediatric Endocrinology. She has been a consultant in the department since 2009, with her main clinical interests including diabetes mellitus, disorders of sexual development and gender identity issues. She has ongoing research in the areas of diabetes technology and the effects of dysglycaemia on the brain.
Ms. Chloe Hanna completed a B. Sc. Biomedical Science at the RMIT University followed by a Master of Genetic Counselling in2014 at the University of Melbourne, completing a thesis exploring the psychosocial needs of women with DSD. Chloe previously worked in the disability sector for over 15 years. In 2016, Chloe established the role of Clinical Coordinator for individuals with variations/differences in sex development at the Royal Children’s Hospital, and currently provides direct support to individuals, families and the broader community throughout Australia. Chloe’s key interest is to enhance the multidisciplinary approach to DSD healthcare including psychosocial support pathways.
Dr. Aurore Bouty is a Paediatric Urologist at the Royal Children’s Hospital, Melbourne. She trained as a Paediatric Surgeon in France and subsequently migrated to Australia in 2015 to further specialize in Paediatric Urology. Since then she has benefited from the experience of Professor John Hutson in the management of children born with Disorders of Sex Development. Her research interest resides in the Genetics of DSD and she is currently a Ph D student in Andrew Sinclair’s Reproductive Development team at the Murdoch Childrens Research Institute.
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