Turner syndrome is a chromosomal disorder that affects females. It is a condition in which one X chromosome in a girl is fully or partially missing. It is a lifelong condition that cannot be cured. However, treatment and appropriate care can help the girl lead a happy and independent life. It can generally be detected before birth, during infancy or during early childhood. In some minor cases, the diagnosis may get delayed to adolescence or early adulthood. Turner syndrome can cause several medical and developmental problems like short height, failure of ovaries and heart defects. There are treatments like growth hormone therapy, estrogen therapy and pregnancy and fertility treatment that can assist the girl in remaining healthy even with the absence of one X chromosome.
Growth hormone therapy is used to increase the height of the females suffering from turner syndrome. Recombinant growth hormone is given as injection to them every day. The earlier the treatment starts the more improvement will be done to bone and height growth. Doctors recommend oxandrolone hormone for girls with very short stature. It increases the body’s production of proteins resulting in the improvement of bone mineral density and increase in height. Estrogen is the hormone that helps in bone mineralisation, promotes breast development and improves the size or volume of uterus. Estrogen therapy is needed for a girl suffering from turner syndrome to start puberty. Combined with growth hormone, it also helps in increasing the height. This therapy should start at the age of 10-12 years and continue until the average age of menopause is reached. Most women suffering from tuner syndrome cannot get pregnant without fertility treatment. Therefore, it is very important to discuss your condition and reproductive goals with your doctor. You must consult a good doctor and discuss all the options in detail as women with this syndrome often face high risk pregnancies.
Girls born with only one X chromosome must go for this treatment. You must look out for signs like broad chest with widely spaced nipples, swelling of hands and feet, slowed growth, cardiac defects, low hairline on the back of the head, failure to begin sexual changes expected during puberty and early end to menstrual cycle not due to pregnancy.
Sometimes, an individual may face above mentioned signs due to some other medical treatment she has been going through and not turner syndrome.
Some injections may cause temporary redness, irritation and rashes in skin.
You must make regular appointments with your doctor to keep a check on the improvement in your condition. Make sure that you are consuming a healthy and nutritious diet filled with fresh fruits and vegetables, nuts, dairy products, pulses, fish, meat etc. Stay away from alcohol and tobacco. Exercise regularly to keep your body fit and active.
Turner syndrome is a lifelong condition i.e. can never be fully cured.
Growth hormone therapy costs around ₹30000 per injection depending on your condition. Costs of other therapies vary with the severity of your condition.
Turner syndrome cannot be cured fully. It can just be made manageable through different treatments.
There are no alternatives to these treatments.
Rs 25,000 - Rs 30,000
Although most women experience menopause between the age of 45 and 55, but when women experience the menopause before they reach 40, it is termed a premature or early menopause. It is also known as premature ovarian failure.
This may be due to primary ovarian insufficiency in which there is decreased activity in ovaries and the periods spontaneously stops. It may be result of chemotherapy treatment for cancer or it can be surgically induced menopause when the ovaries are removed. Premature menopause can also be caused by treatments for cancer or other conditions that involve chemotherapy or radiation therapy for the pelvis. These treatments can damage the ovaries and result in ovarian failure. The chances of premature menopause depend on the type and amount of chemotherapy as well as the age of the patient
Removal of both ovaries by surgery causes menopause right away. Menstruation stops after this surgery, but the hormones of women facing such condition drop quickly. They experience strong menopausal symptoms such as hot flashes and diminished sexual desire
Chromosome defects like Turner’s syndrome can lead to premature menopause. In this condition, the female is partly or completely missing an X chromosome due to which the ovaries does not form normally leading to early menopause. Women with a family history of premature menopause are more likely to have the same themselves. Autoimmune diseases like Thyroid disease and rheumatoid arthritis that attack the body's immune system may mistakenly effect the ovaries thus preventing them from making hormones.
One should visit a gynaecologist, if the period stops or changes before the age of 40. Menopause is confirmed when a woman does not have her period for 12 months in a row. Blood tests for measurement of oestrogen and related hormones, like follicle-stimulating hormone determines if one has reached premature menopause
Women have premature menopause can be observed as physical problems, emotional disturbances or problems associated with sexual functioning. Women experience sudden waves of mild or intense body heat commonly known as hot flashes and can also experience profuse sweating called as night sweats and have difficulty in sleeping. They experience vaginal dryness and the sexual drive or the libido also decreases. The bone density decreases leading to osteoporosis and fractures. In addition to physical symptoms, there are emotional symptoms like anxiety, mood swings, loss of focus and difficulty in concentration. Women who want to conceive and go through premature menopause may feel extremely upset. The sexual symptoms include dryness and thinning of walls of vagina, thus causing pain or discomfort during sexual intercourse.
Preimplantation genetic screening is a method used to check the number of chromosomes in an embryo. Up to 50 % of embryos produced may have an incorrect number of chromosomes described as aneuploidy. This is a common cause of miscarriage and implantation failure. Pgs can also be used to test for genetic conditions that are caused by an abnormal number of chromosomes. These include Down's syndrome and Turner syndrome.
The patient undergoes a specialised IVF process using ICSI to create a number of embryos. After three to five days, one or more cells are taken from each embryo. These cells can then be tested to determine the number of chromosomes present. The embryos are frozen to allow time for the genetic testing to take. When the results are confirmed, the embryologist selects one embryo with the correct number of chromosomes to transfer back to the patient.
Who can benefit from preimplantation genetic screening?
Pgs is offered to women over the age of 37. Using pgs, the chances of pregnancy from embryo transfer in older women are as good as those seen in younger women. However, with advanced maternal age, the chances of making an embryo with the correct number of chromosomes are lower.
Pgs may also be offered if you or your partner have a history of chromosomal abnormality-related conditions in your family. It is important to note that pgs cannot be used to detect the presence of conditions caused by single mutations in genes; for these cases, preimplantation genetic diagnosis (PGD) can be used.
Pgs is one of the investigations recommended if you have had recurrent miscarriage or previously failed IVF.
What are the benefits of PGS?
A significant benefit of PGS is the reduction of miscarriage rates. Aneuploidy is a large contributor to recurrent miscarriage, so by testing embryos before transfer, the rate of miscarriages are reduced and can be of great help to the couples struggling with recurrent miscarriages or IVF failures