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Turner Syndrome A Guide for Parents and Patients

Source: www.bsped.org.uk
Topic: Turner syndrome
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Sort Desciption: This booklet is written for parents of children with Turner Syndrome who wish to know more about the condition. ...

Content Inside:
Turner Syndrome was first fully described by an American, Dr Henry Turner in 1938. Turner Syndrome (TS) is a chromosomal condition affecting approximately 1 in 2,500 live female births. The diagnosis is confirmed by examination of the chromosomes from a blood sample (karyotype). Turner Syndrome is usually characterised by short stature and non-functioning ovaries leading to the absence of pubertal development and infertility. There is no increased risk of mental retardation in Turner Syndrome girls whose intelligence spans the normal range.

The physical features associated with Turner Syndrome may include webbing of the neck (extra folds of skin); nail abnormalities; puffy hands and feet; coarctation of the aorta (constriction or narrowing of the main artery from the heart which can be corrected with surgery). Feeding problems may occur in the early childhood years and there can be learning or behavioural difficulties which may need professional help. A full list of associated features is given at the end of the booklet.

It must be emphasised that some girls may have only one or two mild features of the syndrome while others may have several easily recognised ones.

"I think doctors should be more educated about Turner Syndrome so they will be able to diagnose it earlier and give the correct information"

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