TURNERS SYNDROME

Turner’s syndrome is a condition in which a human female is missing one of her chromosomes. As I have already discussed

Humans have 46 chromosomes. They appear in pairs of 22 which are anatomical chromosomes, and 2 are the sex chromosomes, XX in female, XY in male.  If a female child is born with only one X chromosome it does not develop in to a normal female. The general characteristics of these are very variable depending on as to how many cells are missing one x chromosome. This is called  Mosaicism

Even in utero this foetus does not develop normally its tissues swell and it develops thickening round the neck called cystic hygroma, lower than normal weight, swelling of hands and toes. This diagnosis can be made from the blood test from the foetus and pregnancy can be terminated. It is not an inherited condition, it happens during the process of reproduction. At birth a baby born with turners’ syndrome shows broad neck, small weight, hands that turn out, a high narrow palate and swollen hands and feet.

It may even look like a normal female baby depending on how many cells within the body are abnormal, this is called mosaicism.  A lot of turner syndrome pregnancies are lost as miscarriages, some are terminated and some are born normally.  They can appear normal up to 3 years of age, then their growth spurts stop, they have learning difficulties and puberty does not happen. Periods do not happen. The growth problem can be helped by female hormones. In present day with the help of IVF they can even have a baby. In my time I have terminated two pregnancies, looked after a woman who had a baby with the help of IVF. I must tell you this last story Tina had 7 miscarriages under my care, other experts and I could not help her when she was having her 8 pregnancy she was 41 years of age. Investigations into the wellbeing of the foetus showed it had turner syndrome but otherwise the baby appeared normal.She decided to have this baby. The baby was born in good condition and grew nicely up to 10 years of age unfortunately I lost contact with them. I hope she is growing up nicely and normally.