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TURNER SYNDROME MANAGEMENT GUIDELINES

Source: www.apeg.org.au
Topic: Turner syndrome
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Sort Desciption: Turner syndrome affects around one in 2500 female live births, the majority of which carry mosaicism in at least some tissues. Thus, the phenotypic features vary significantly among affected individuals. ...

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Turner syndrome affects around one in 2500 female live births, the majority of which carry mosaicism in at least some tissues. Thus, the phenotypic features vary significantly among affected individuals. Consequently, while short stature and gonadal dysgenesis are almost universal in Turner syndrome, many other organ systems are affected to varying degrees and at different stages of life. A multi-disciplinary approach to management is therefore essential, and should be based on knowledge and awareness of the likely and potential adverse outcomes in each organ system. These Guidelines are designed to provide the basis of management protocols at key stages of development from birth to adulthood. The information has been drawn from various sources, both from medical/scientific consensus forums and from Turner support groups and their publications, as cited in the reference list. While most of the guidelines are evidence-based, some recommendations are based on consensus or opinions from experienced professionals or affected women with Turner syndrome. Diagnosis While the diagnosis of Turner syndrome may be made in utero or in the newborn period, it may be delayed into late childhood, adolescence, or even adulthood because of failure to recognise the significance of poor growth or ...

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