This is a beginner's guide for anyone who wants a basic understanding of the condition that this blog is all about.
Turner Syndrome was named after Dr Henry Turner in 1938. Dr Turner had noticed a phenomenon of some female patients who had short stature as well as infertility. The abnormaility is chromosomal, whereby at meiosis, the cell division which forms eggs or sperm, the sex chromosome does not split correctly and the resulting fetus has one whole X chromosome, and one wholly or partially absent one. This always results in phenotypic females, to be male you have to have a full functioning Y chromosome. In roughly 80% of T.S. girls the functioning X chromosome is of maternal origin.
Turner syndrome is thought to occur in 1 in 2500 - 1 in 2000 live female births, but only 2% of conceptions where the foetus has T.S. make it to term.
The main universal features of the syndrome are short stature and infertility. Girls and woman can get diagnosed at any age for a variety of reasons, and there are many associated medical complications which can result, so once diagnosed regular check-ups are important.
Through this blog I will try to educate and explain many of the issues that those with T.S. face, and in some posts how it has personally affected me.
Please comment and ask questions too, but also bear in mind that while I am a pharmacist, and living with T.S. myself, I am not a doctor and if you need more information, clarification and reassurance please seek medical advice.
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