Live Life Team
Known by its short form TS, is a genetic disorder found only in females. This problem arises due to the missing of the X chromosome either completely or partially. This disease condition is relatively rare and studies show that only one among 2000 females gets affected. A classical turner syndrome is the one which is characterized by total absence of the X chromosome. ]
Symptoms
The most common symptoms include:
Short stature: Initially the children may exhibit normal growth rate bur eventually their growth becomes less than average. Like normal children puberty won’t be characterized by the so called growth spurt in such children.
Non-functioning ovaries: For a normal girl, her ovaries are functional and produce oestrogen and progesterone hormones by the time they attain puberty. But this is not the same case of girls having TS and they do not attain menarche or build up breasts unless they undergo hormone therapy. Although most women suffering from TS have ovaries that do not function properly and are sterile, their reproductive structures remain the normal.
Other symptoms possibly will comprise a particularly broad neck (webbed neck) and a low down or vague hairline. A wide chest and broadly spaced nipples are common. The arms are turned out to some extent at the elbow. A cardiac murmur might be related with thinning of the aorta. Tiny, murky birthmarks may be present. Their nails may be spoon-shaped nails. Likelihood to develop elevated blood pressure. Children with TS may suffer from otitis media (middle ear infection) and ‘glue ear’. This can impair hearing ability in few cases. Minor visual impairments and squints may be present. Scoliosis is the condition featured by malformation of the spine and occurs in 10% of females. Again 10% of them have hypoactive thyroid gland. Elderly women particularly if they are obese are at more risk of developing diabetes. Osteoporosis may be resulting owing to hormonal influence.
Causes
This problem arises due to the missing of the X chromosome either completely or partially.
People of all races and nationalities are equally at risk. Till date no factors have been identified that may aggravate or precipitate the condition.
Diagnosis
The typical bodily features are sufficient enough to diagnose turner syndrome. These features include webbed neck, wide chest and broadly spaced nipples. Short physique and the malformed ovaries are the two most important characteristics.
TS can even be detected when the child is still in its mother’s womb. An ultrasound scan is quite useful with this regard. A chorionic villus sampling or amniocenteses are diagnostic procedures that help to diagnose the condition intra – abdominally.
A blood test, named as karyotype is the final diagnostic measure .The chromosomal composition of the child is checked by this test.
Treatment
The children should be under the close monitoring of a paediatrician. Steroid and hormonal supplements need to be given to the children to assist
Administration of oestrogen hormone is very important to induce periods. It can also prevent osteoporosis. The management is based on symptoms that appear.
A normal life is possible by prompt medical intervention.
