GENETIC OR CHROMOSOME ABNORMALITIES

Let me focus on chromosomes, these are thread like bodies in the living cells of each living being which give us our particular characteristics, these contain our DNA and GENES. As the cells divide they must transfer the exact number of cells into the new cells. We humans have 46 chromosomes and they live in pairs. 44 of these give us our characteristics e.g. our height, our eyes, that we get from our parents. Two of these chromosomes are sex chromosomes X and Y. A human female is XX and male is XY. When reproduction takes place these can be mixed up and produce children with abnormal sexual identity. When the chromosomes in other 44 pairs are mixed up they produce children with physical abnormalities named as different syndromes. Many of these have been identified and named but we are still working on many others when we cannot give a diagnosis to an abnormal child.

In this post I am going to describe two such cases with abnormalities of sex chromosomes.

Ronald and Teresa came to see me because they had been married for four years and unable to achieve a pregnancy. Teresa was 26 years of age well built like a normal female. She has never had any problems with her menstrual cycles. It seemed that she makes an egg regularly and in fact her test for ovulation was very good. Ronald’s who was 28 years of age was normal in appearance, normally men with Klinefelter  Syndrome are taller, but he was of normal height ,5ft 7inches he had no gynaecomastia(Breasts) which they often have, although the hair on his face and hands was scanty. This is another feature of Klinefelter Syndrome. Cardiac abnormalities are also noticed with this syndrome however not in this case.

A test for semen analysis showed azoospermia. The testicular hormone was low. When his chromosomes were done they were XXY which is a predominant feature of Klinefelter Syndrome. So obviously he had Klinefelter Syndrome. Sometimes the chromosome can go haywire they can be XXXY and so on. More number of X chromosomes, more obvious the condition. This was first described by Harry Klinefelter in1940 hence the name. It occurs in one child out of 590 births .Things can be improved as regard the appearance of the adolescent if diagnosis was made early and he had been given testosterone as an adolescent. In some modern cases infertility is treated by IVF by intracytoplasmic injection. I had referred this couple to IVF.