Turners syndrome is a chromosomal disorder where a female misses an X chromosome either partly or completely. It is known as 45XO /45 X condition.
Each cell of our body has 23 pairs of chromosomes of which one pair is the sex chromosome. Boys have both X and Y chromosomes and girls have two X chromosomes. When there is a defect in one of the X chromosome in girls, it causes Turners syndrome. Features of Turners syndrome vary depending on the number of cells affected. It may be partly affected or affected entirely.
Signs and symptoms
Most commonly seen signs and symptoms of Turners syndrome are:
Short stature, low posterior hairline, low set ears, broad chest with widely spaced nipples, high arched palate, swelling of hands and feet of new-born, webbed neck, small jaw line, decreased palmar crease, cubitus valgus, heart valve defects such as bicuspid aortic valve, aortic valve stenosis, coarctation of aorta, ear infections, nonverbal learning difficulty (problems in solving math at school), amenorrhea due to low estrogen production and infertility due to failure to produce mature eggs.
Frequency
Turners syndrome affects 1 in 2500 births among girls worldwide. It is much more common in the number of spontaneous abortion cases and stillbirths.
Inheritance
The error in the missing X chromosome can be from the father or the mother. Usually the error occurs in formation of the sperm cell of the father.
Diagnosis
Turner syndrome can be diagnosed during pregnancy with an ultrasound test. This can further be confirmed by other tests like amniocentesis or chorionic villus sampling which is done on the unborn baby. It is also diagnosed in childhood when the child fails to attain normal height or at puberty.
Treatment
Treatment of Turner’s syndrome involves mainly hormonal therapy. It is given for;
Growth
Daily injection of growth hormone increases final height by an average of 7.5cm.This is given from the time of diagnosis till the final height is obtained.
Puberty
Girls with Turner’s syndrome often fail to attain puberty. Oestrogen which is a female hormone is given with gradually increasing doses that helps in breast development and onset of periods. Then it is maintained with tablets containing estrogen and progesterone or hormonal replacement.
Other health problems are treated by other specialists as and when it is required. Most females with Turner’s syndrome conceive only by IVF treatment with donation of egg or embryo.
Side effects of treatment
Some side effects like headache, vomiting, visual problems, increasing blood sugar and lipid levels, ear infections etc have been reported with growth hormone treatment. Oral contraceptive pills may cause side effects like vomiting, high blood pressure and cholesterol, weight gain and increased chances of blood clots.
People suffering with Turner’s syndrome should have regular health check-ups in order to avoid long term complications.
