Turner syndrome is a chromosomal disorder found only in women. In this syndrome, the sex chromosome, i.e., the X chromosome, is missing or partially missing. This syndrome can cause too many development issues like short height or not proper body development and medical issues like heart defects or ovaries development failure.
Turner syndrome can be diagnosed at any phase in life from before birth to young adult years. A woman with this syndrome can carry on with normal independent life if they do things as per their gynecologists suggest.
Turner syndrome can show different types of symptoms in different girls. Some might end up showing no sign of having turner syndrome and in some women, turner syndrome can lead to improper body development or medical issues like a heart condition. Different phases in like show different signs and symptoms which can help a parent realize they need to consult a doctor:
– Before birth
Before birth, turner syndrome can be detected via prenatal cell-free DNA screening. This screening will detect any chromosomal abnormalities or any other medical abnormalities in the developing baby, like heart and kidney abnormalities or abnormal fluid collection on any part of the body.
– During infancy
After birth, there are several signs that a parent can emphasize on like low-set ears, broad chest, wide neck, fingernails or toenails that are narrow or turned upwards, swollen hands or feet, slow growth, cardiac defects, short height, short finger or toes, and smaller low jaw. These are the signs that need attention and if you find any of these in your girl, you need to consult a doctor immediately and go through all the procedures.
– During teens or adulthood
The most common symptom you will find in your girl during her teens or adulthood of turner syndrome is ovarian scarcity because of ovarian incapability. This can lead to multiple issues like short stature, no growth spurts, failure to face sexual changes during puberty, premature end of the menstrual cycle, and inability to conceive a child without fertility treatment.
Causes of Turner syndrome
The primary cause of Turner syndrome is when one copy of the X chromosome (sex chromosome) ends up missing or partially missing or being altered. This situation can arise because of a series of reasons, some of them are:
During fetal development, sometimes, an error occurs in cell division, which results in some cells in the body having two complete copies of X chromosomes and others having only one.
Because of some sort of error in the father’s sperm or mother’s egg, there can be a complete absence of an X chromosome in the daughter. This will cause having just one X chromosome in every cell in the body.
– Y chromosome material
Sometimes, one cell has a copy of the X chromosome and the other cell ends up having a copy of the X chromosome and some Y material, which increases the risk of developing a type of cancer called gonadoblastoma. Biologically, this individual develops as a female-only.
– X chromosome abnormalities
Cells with a complete and altered copy of chromosomes can lead to Turner syndrome. There are chances that because of some error in the sperm or egg, abnormality in one of the X chromosomes can occur and can lead to having one complete and one altered copy.
This error can also occur during fetal development while cell division takes place in which some cells end up having the abnormal or missing part of one of the X chromosomes.
One might get multiple medical problems because of turner syndrome, which includes cardiovascular problems, bone problems, kidney defects, hearing problems, autoimmune disorders, metabolic syndrome, mental health challenges, and vision problems.
This medical combination can happen in any permutation and combination and therefore, it is extremely important that Turner syndrome is given proper medical attention in the stipulated time. There are various treatments available for turner syndrome:
– Human growth hormone therapy
Human growth hormone therapy (HGH) received US Foods and Drug Administration approval in 1996 and is considered an effective and safe way to treat turner syndrome.
These injections are used to increase height among the woman by several inches. There are various benefits of HGH therapy; it can treat delayed sexual development, help with the overall height and weight of the person. It can also help in muscle building and stamina increase. It can also help with recovery from an injury.
HGH therapy should only be carried out under professional guidance. It should be only consumed if prescribed by the doctor and stick with the doses prescribed. If it is taken without professional guidance it can cause real harm to the body.
– Cyclic progestins
Cyclic progestins are the hormones that are injected if the blood test shows deficiency at 11-12. These hormones are used to induce the menstrual cycle. One cannot consume these hormones without the doctor’s consultation because the dosage of this hormone is low initially and then is escalated.
– Estrogen therapy
Estrogen is a female hormone used to develop breasts and begin menstruation among women. This hormone helps in getting the typical size for the uterus and also improves the brain’s typical size, heart function, skeletal function, and liver health. This is a treatment that is used widely in TS for sexual development among women.
Turner syndrome is a common sex chromosomal disorder affecting girls and women but can also be very challenging at the same time. A girl or woman affected by TS can face issues like low self-esteem, which can lead to anxiety and depression. This feeling occurs because of their physical concerns, infertility concerns, and health problems that come along with TS.
It can lead to mental health issues as well. TS comes with various myths, but women with turner syndrome are usually good and the life expectancy is also good if the diagnosis happens on time. Women with TS can also get pregnant using special fertilization techniques. Hence, Turner syndrome is not a disease or a major issue if taken care of and treated on time.
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