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  • Author: Mette Hansen Viuff x
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Mette Hansen Viuff and Claus H. Gravholt

Turner syndrome (TS) is a condition with a missing X chromosome (45,X) or parts thereof, or with a mosaic setup (45,X/46,XX or other variants). It is a rare disease. New international guidelines describe an appropriate setup for optimal clinical care. Several countries have implemented a program with centralized adult Turner syndrome clinics, which are now found in France, Denmark, the Netherlands, Sweden and parts of England and possibly other countries. This should ensure the availability of high quality multi-disciplinary care for all women with TS to be treated and to detect all the conditions that have been associated with TS, which typically appear at odd times during the lifetime of a female with TS. Care should be offered at no added cost for the patient, and treatment with relevant drugs should be available at reasonable cost for the individual patient. Currently, it is quite problematic that many female sex hormone preparations are not available at low cost in a number of countries. For example transdermal drugs such as gels or patches are not available in all countries or are only available at high costs. Additional problems include supply chain problems that many times lead to patients not being able to buy their usual drug for a certain period of time.