Turner syndrome is among a rare genetic disease, with an incident of 1 in 2500 female births. It is a common sex chromosome abnormality only in women. Turner syndrome has a distinctive physical features like short height, ovarian digenesis, too much risk for heart and renal imperfections. In this abnormality, patient faces several difficulties which increases over the lifespan. Today, through this article, we will know about Turner Syndrome and about women’s life with Turner Syndrome.
Turner syndrome is a chromosome abnormality related to the X chromosome that changes development in women. This condition affects only women that too when one of the X chromosomes is missing completely or partially. Women having this abnormality are seen to be shorter in height than average and are many a times unable to conceive a baby because of an absence of ovarian function. Other features that vary among women having Turner syndrome includes, extra skin on the neck, puffiness of the hands and feet, skeletal abnormalities, heart defects and kidney problems.
Researchers are yet trying to determine which genes on the X chromosome are actually responsible for Turner syndrome. Still, they have identified one gene named SHOX that is essential for bone development and growth. Missing one portion of this gene may causes short height and skeletal abnormalities in women having Turner syndrome. Women’s life with Turner Syndrome is not that easy.
Turner syndrome can be identified before birth, during infancy or even in early childhood. Sometimes, in females having mild symptoms of Turner syndrome, the identification is delayed till they reach their teen or young adult years. Females with Turner syndrome need proper medical care from specialists. Regular checkups, adequate care and early intervention can help women’s life with Turner syndrome lead normal healthy life.
Causes of Turner Syndrome
Normally, a person is born with 46 chromosomes in each cell, which are divided into 23 pairs including two sex chromosomes. Half of the chromosomes are received from the father and the other half from the mother. The chromosomes contain genes, which ascertain an individual's traits, like eye color, body height etc. Normally, girls are born having two X chromosomes, but girls with Turner syndrome have only one X chromosome or partially missing one X chromosome.
The cause of Turner syndrome is not related to girl's parent’s activity. This abnormality is a mere error in cell division that occurs when a parent's reproductive cells are being formed. The condition is named after Dr. Henry Turner, an endocrinologist, who in 1956 diagnosed a set of certain physical features in some of his female patients.
The genetic change of Turner Syndrome can be:
- Monosomy – In this condition, there is a complete absence of an X chromosome. It mainly occurs because of an error in the father's sperm or in the mother's egg. This affects in every cell in the body by having only one X chromosome.
- Mosaicism - In few cases, a defect occurs in cell division during fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.
- Y chromosome material - In rare cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome along with some Y chromosome material. These individuals develop as female, but due to the presence of Y chromosome material, are prone to the risk of developing a gonadoblastoma cancer.
- X chromosome abnormalities – In this condition, abnormal or missing parts of one X chromosomes can occur. Here, cells have one complete copy and one altered copy. This defect can occur in the sperm or egg with all cells having one complete copy and one altered copy. This defect can also occur in cell division in early fetal development so that only some cells contain the abnormal or missing parts of one of the X chromosomes i.e. mosaicism.
In a research it was found that, around 99% of female infants having missed chromosome are miscarried and approximately only 1% of these babies are born and suffer having Turner Syndrome.
Symptoms of Turner Syndrome
- Females having Turner syndrome have shorter height than average. They can have normal height usually for the first three years of age, but growth rate slower down in later years. At puberty they do not have the normal growth.
- Non-functioning ovaries are one of the critical symptom of Turner syndrome. Normally a girl's ovaries begin to produce sex hormones at puberty but this does not happen in the girls having Turner syndrome. They do not start their periods or develop breasts normally without hormone treatment at the age of puberty.
- Even though many women having non-functioning ovaries and are infertile, yet their vagina and womb are totally normal.
- Girls having Turner syndrome may have frequent middle ear infections. In several cases, continuous infections can even lead to hearing loss.
- Women’s life with Turner Syndrome are usually of normal intelligence having good verbal and reading skills. Some girls, somehow, have problems with math, memory and fine-finger movements.
- Abnormal eye features which includes drooping of the eyelids.
- Abnormal development of bones of hands and elbows.
- Wide webbed neck having low hairline.
- Heart murmur mostly related to narrowing of aorta.
- A symptoms of developing high blood pressure.
- Vision problem that are corrected by glasses.
- A spinal defect i.e. scoliosis, which occurs in adolescent girls having Turner syndrome.
- Under-active thyroid IQ gland. Frequent blood test is required to detect Turner syndrome in initial stage to treat this abnormality. Thyroid replacement is recommended, if necessary.
Problems related to women having Turner syndrome
A harsh truth for women having Turner syndrome is that, they all will be infertile or will not be able to become pregnant naturally. Some more problems that can affect women’s life with Turner syndrome includes kidney problem, high blood pressure, obesity, heart problem, diabetes, vision problem, thyroid problem, abnormal bone development and lot more. Women with this abnormality may have learning problem especially in mathematical calculation, map reading, and hearing problems and even with body image.
Reason can be any but family history is not a factor for having Turner syndrome. It is not like, parents of one child with this abnormality will have another child too with the disorder.
Let’s discuss certain complications that can occur in women’s life with Turner syndrome:
- Heart problem: Several infants having Turner syndrome are born with heart defects or certain abnormalities in heart structure. It further increases their risk of critical complications. Heart defects mainly includes problematic aorta i.e. the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body.
- Kidney problems: Women with Turner syndrome may have certain Kidney deformity. Though these abnormalities usually don't cause any medical problems, but they may increase the chances of high blood pressure and UTIs.
- Loss of Hearing: Loss of Hearing is common among women with Turner syndrome. This is mainly due to the gradual loss of nerve function. Risk of frequent middle ear infections can also lead to loss of hearing.
- Problem in Learning: Women with Turner syndrome usually have normal intelligence, but may face some problem in learning, especially the spatial concepts, math, attention and memory.
- Problem with Mental health: Women with Turner syndrome may have difficulties in functioning well mainly in social situations and have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
- Problem in Vision: Women’s life with Turner syndrome have an extreme risk of weak muscle related to eye movements, shortsightedness and other vision problems.
- High blood pressure: Women with Turner syndrome have an increased risk of a condition that increases the risk of developing diseases of the heart and blood vessels further develops high blood pressure.
- Autoimmune disorders: In this condition, women are seen having a risk of an underactive thyroid. They also have a risk of diabetes and inflammatory bowel disease.
- Infertility: In most cases, women with Turner syndrome are infertile. However, there is an evidence of a very small number of women who became pregnant spontaneously. Some can become pregnant with fertility treatment.
- Physique problems: Problems with the proper development of bones increases the risk of abnormal curvature of the spine. Women with Turner syndrome are also at high risk of developing weak, brittle bones which further results to many bone related problems.
Treatments for Turner syndrome
Injections of growth hormone are beneficial in several women with Turner syndrome. Injections may increase final adult height by a few inches. Estrogen replacement therapy is recommended at the time of normal puberty i.e. around 12 years to start breast development. Estrogen and progesterone can be given to begin a monthly period. Estrogen is also suggested to prevent osteoporosis.
Women having Turner syndrome are at a risk to get middle ear infections. An ear, nose and throat specialist may be consulted for this health issue. Above all, regular health checks are very essential. Almost all women are infertile, but pregnancy with donor embryos may be possible.
Though, complete cure for Turner syndrome is not possible, still there are several treatments which can help a women having Turner syndrome:
- Estrogen replacement therapy – It helps a female develop the physical changes of puberty, which includes breast development and menstrual periods. This treatment should be started when a female child is in the age of 12 or 13. It is given until a woman reaches the average age of menopause.
- Growth hormone – Growth hormone may improve growth and will result in increasing final adult height, that too, only if treatment is started in early age. It is injected few times a week to increase height as much as possible.
- Reproductive technologies – It can help women with Turner syndrome become pregnant. With in-vitro fertilization, donor eggs are used to create embryos, which can be inserted into the uterus of a woman having Turner syndrome. With the help of hormone treatment, the woman can carry a developing fetus.
- Cardiac surgery – It is basically recommended to cure specific heart disorder.
Women with Turner syndrome needs special treatment. With appropriate care, these women are able to lead full, productive and happy life. Special clinics for the care of girls and women who have Turner syndrome are available in some areas and some more are required to open, with access to a variety of specialists. Early preventive care and treatment is very important.
Turner syndrome, a genetic disorder, can be monosomy, mosaicism, Y chromosome material or X chromosome abnormalities. Reason can be any but family history is not a factor for having Turner syndrome. This disorder can lead to kidney problem, heart problem, vision and hearing problem, infertility, physique problem and many more.