What is Turner Syndrome

Turner Syndrome is a common genetic condition found in approximately 1:2000 live female births. A syndrome means a collection of features and for those with TS this includes a combination of characteristic physical features and a complete or partial absence of the second sex (X) chromosome in some or all cells (Saenger et al. 2001). Described and named by Henry Turner (1938), nearly all those with the syndrome have short stature and insufficiently or non-functioning ovaries and thus face future infertility.

Their difference from peers is further complicated for some young people with TS who have additional features of chronic illness including serious heart problems, significant hearing loss, lymphoedema2 and other symptoms. Although some girls with TS do not experience significant psycho-social issues, studies note a social immaturity in early adolescence and a tendency to draw back from social relationships (Swillen etal. 1993). Other girls can experience lowered self-image arising from the insensitive responses of their peers (Rickert etal. 1996). All have a childhood and adolescence in which regular medical review and treatment play a large part in their experience of growing up.

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