Turner syndrome(XO)

1. Turner syndrome(XO) By- Christine & Harpreet!

2. What is turner syndrome? • Turner Syndrome (TS) is a chromosomal condition. • Normally, each cell has twenty-three pairs of chromosomes, making a total of forty-six chromosomes. One of these pairs, the sex chromosomes, determines the gender of the foetus (46XY for a boy and 46XX for a girl). In Turner Syndrome there will usually be an X chromosome or portion of one missing in all or some of the cells.

3. who does it affect? • Turner’s syndrome is a lifelong condition. • Affects approximately 1 in 2,000 females. • it has been estimated that only one per cent of foetuses with this abnormality survive to term and as many as 10 per cent of miscarriages have this chromosomal abnormality.

4. Life expectancy! • They don’t have reduced life expectancy however they can die from other illnesses related to turner syndrome.

5. Signs & symptoms! • short stature (average height 143cm) • lack of secondary sexual characteristics (failure to develop at puberty) • infertility. • eye, ear, heart, kidney and thyroid problems • low set ears, • low hairline • webbed neck • bending out of the elbows and puffy hands and feet. • The intellect of TS girls and women is the same as the range of that in the normal population. • spatial skill and psycho-social problems.

6. Effects! • Common medical problems Some of the medical problems that may need to be considered include: Congenital heart defect - the various structures of the heart may fail to develop normally in utero. While some of these correct themselves, others need surgery. • Hearing problems - women with Turner’s syndrome may have some deafness caused by childhood ear infections. They may also develop nerve deafness caused by degeneration in the hearing nerves. • Middle ear infection- girls with Turner’s syndrome are more vulnerable to ear infections because their ear tubes are narrower than normal. • High blood pressure (hypertension) - this occurs more commonly in teenage and adult women with Turner’s syndrome. It may be caused by a narrowing) of the aorta (a major artery), which can be surgically repaired. However, often a reason for the increased pressure can’t be found. • Kidneys - an ultrasound may show some structural abnormalities in the kidneys but these differences don’t usually affect how well the kidney works. • Thyroid function and diabetes - there is a higher rate of type II diabetes and thyroid gland disorders in women with Turner’s syndrome

7. Treatment options! • Surgery to correct any heart defects • Growth hormone therapy to increase height • Hormone replacement therapy to trigger menstruation and the development of secondary sexual characteristics such as breasts • Regular monitoring to check hormone levels • Regular follow-up and management of medical conditions • Treatment for the management of complications such as high blood pressure • Assisted reproduction. Where to get help? • Doctor • Endocrinologist • Gynecologist • TS Clinic who have experience with TS.

8. Prenatal detection! • Before birth (prenatally) - usually if an amniocentesis has been performed or abnormalities are seen during an ultrasound • At birth - due to certain physical features.