Turner Syndrome – Risk factors and Treatment of Turner Syndrome
The various risk factors associated with Turners Syndrome is not known well. Risk factors for Turner syndrome are not well known. Some state that the risks increase with increase in maternal age like in case of Down Syndrome. But unlike Down Syndrome the role of maternal age is unclear in Turner syndrome. 75% of people with inactivated X chromosome have been observed to have paternal origin.
Likewise, there are several theories associated with the causative factors but none of those have been given an approval. The only scientifically proven fact states that due to some unstated reasons, a part of or all of either of the sex chromosome cannot get transferred to the fetus. This causes the Turner Syndrome.
About 98% of fetuses with Turner Syndrome often result in a miscarriage. In the US, this condition counts for about 10% of the total number of abortions. The frequency is about 1 in 2500 live births. The name is given as per an endocrinologist from Illinois, Henry Hubert Turner. He was the first man to describe it in the year 1938. Other names of Turner Syndrome are – Ullrich-Turner syndrome or Bonnevie-Ullrich-Turner syndrome.
Turner syndrome during pregnancy may be diagnosed by amniocentesis. Abnormal ultrasound findings like –
- cystic hygroma
- heart defect
- kidney abnormality
A karyotype test might also help which involves the analysis of the chromosomal composition of an individual.
Most physical observations in the Turner Syndrome are harmless, but there can be significant problems associated like –
- Cardiovascular defect
- Congenital heart disease
- Bicuspid aortic valve
- Coarctation of the aorta
- Partial anomalous venous drainage
- Aortic dilation, dissection, and rupture
- Pregnancy dilemmas (infertility, premature ovarian failure, primary amenorrhea and streak gonads)
- Skeletal deformity (lowered height and shorter bone length in the fourth toe and ring finger)
- Kidney problems (single but horseshoe-shaped kidney, abnormal urine-collecting system, poor blood flow to the kidneys)
- Thyroid disorder (hypothyroidism)
- Cognitive defects (learning disabilities, perceiving spatial relationships, difficulty with motor control)
Treatment of Turner Syndrome
Since Turner syndrome is a chromosomal condition, no treatment is present for Turner syndrome. But still many things can be done to reduce and minimize the symptoms. Doctors are working on developing various treatment options to correct some of the problems or abnormalities associated with Turner syndrome.
Treatment of growth abnormality
- Sometimes, growth hormone alone or in association with a low dose of the hormone androgen. This will help in improving growth in the patient. The hormones will work in increasing the final adult height. But for better results, the treatment must be started at an early age.
- Some also prefer estrogen replacement therapy to promote development of secondary sexual characteristics in the patient. Estrogen help in maintaining the integrity of the bone and tissue health. Women with Turner Syndrome do not undergo puberty spontaneously. If they are not treated with estrogen, they are at high risks of developing osteoporosis.
- Estrogen replacement method is done to develop the physical changes of puberty like – breast development, menstrual periods etc. The estrogen replacement is essential to be done after as soon as a girl reaches the age of 12-13 years.
Treatment of infertility
- Several modern technologies have enabled women with Turner syndrome to conceive.
- A technique called IVF (in vitro fertilization) can make the possibility of defective fertility real.
Living With Turner Syndrome
- Though the patients with Turner syndrome suffer from certain learning difficulties, they can attend school and classes regularly.
- They can learn well by hearing and write, memorize information and also gradually develop good language skills.