Turner Syndrome: Causes, Symptoms, Diagnosis, Treatment and Complications

A missing or partially deleted X chromosome causes turner syndrome, a condition that mainly affects females. Turner syndrome can result in a wide range of medical and developmental problems, such as ovarian failure, short height, and heart defects.

Turner syndrome can be recognized during pregnancy, infancy, or the first few years of life. Sometimes it takes until a girl is in her adolescent or young adult years to diagnose turner syndrome in girls who have mild signs and symptoms.

Patients with Turner syndrome require ongoing medical care from a variety of specialists. The vast majority of girls and women may enjoy healthy, independent lives with regular examinations and the right treatment.

Causes Of Turner Syndrome

Most people are born with two sex chromosomes. The X and Y chromosomes are given to males by their mothers and fathers, respectively. X chromosome from both parents are given to a female chils. In females with Turner syndrome, one copy of the X chromosome is deleted, partially missing, or mutated.

Any of the following genetic changes could cause Turner syndrome:

• Monosomy. Typically, the full absence of an X chromosome results from a mistake in either the mother's egg or the father's sperm. As a result, there is only one X chromosome in each cell in the body.
• Mosaicism. Early in the development of the fetus, cell division can occasionally go wrong. Because of this, some body cells possess two complete copies of the X chromosome. The X chromosome only exists in one copy in other cells..
• X Chromosomal Changes. It is possible for the X chromosome to have damaged or missing portions. In each cell, there is one unaltered copy and one altered copy.. With each cell having one full and one changed copy, this mistake can happen in either the sperm or the egg. Or the mistake could happen during early fetal cell division, resulting in mosaicism, when only some cells have one of the X chromosomes with the altered or missing portions.
• Y Chromosomal Components. Occasionally, cells with Turner syndrome have both one copy of the X chromosome and some Y chromosomal material in addition to one copy of the X chromosome in other cells. Y chromosomal material increases the risk of gonadoblastoma, a type of cancer, despite the fact that these people develop biologically as girls.
• Effects of a chromosome that is missing or has been altered
• Short stature, ovarian insufficiency, and cardiac malformations are just a few developmental issues that can arise as a result of Turner syndrome's missing or altered X chromosome. These chromosomal problems result in a wide range of physical traits and health difficulties.

Symptoms Of Turner Syndrome

Some of the symptoms which are associated with Turner syndrome are mentioned below:

• Short stature
• Sensorineural hearing loss
• Short 4 metacarpal 
• Amenorrhea (Primary) 
• Barr body absent

• Cardiac anomalies
• Cystic hygroma
• Lymphedema of the Hand and Feet
• Low Thyroid 
• Ovaries Underdeveloped (Streak Ovaries) 
• Webbed neck
• Nipples widely placed
• Shield shaped chest

Diagnosis Of Turner Syndrome

Turner syndrome can be identified by a clinician through prenatal genetic testing done before to birth. Karyotyping is a laboratory technique used to diagnose the illness. Karyotyping, when carried out as part of prenatal testing, can identify any genetic abnormalities in the mother's chromosomes.

In order to check for the physical signs of Turner syndrome, your doctor may also request tests. These examinations could involve:

• Blood tests to measure sex hormone levels
• To check for heart abnormalities, perform an echocardiography.
• A pelvic examination
• Chest MRI scan with ultrasonography of the pelvis and kidneys

Treatment Of Turner Syndrome

You can still live a full, happy life even if you have been diagnosed with Turner syndrome. There is currently no cure, but there are therapies that can help control symptoms and enhance your quality of life.

In children with Turner syndrome, growth hormone therapy might aid in height growth. The average age at which these daily injections begin and terminate is between 5 and 6 years old.

Another viable treatment is estrogen and progesterone replacement therapy. The development of secondary sex traits like pubic hair and breasts can be aided by these hormone replacements, and they can also help with the regularity of periods. The start of puberty is typically when these hormone replacements are started, and they may need to be continued for the majority of an adult's life.

Complications Of Turner Syndrome

Some of the complications associated with Turner syndrome are mentioned below:

• Abnormal renal conditions. Kidney issues are common in people with Turner syndrome. Some people with Turner syndrome also get recurrent UTIs. This may be because the kidneys are positioned improperly in the body or have an abnormal shape.
• High blood pressure.
• Hypothyroidism. Hypothyroidism, a condition when your thyroid hormone levels are low, is yet another potential problem.
• Celiac illness. Celiac disease can frequently impact people with Turner syndrome since they are more likely to develop it than the general population. Gluten, a protein found in foods like wheat and barley, causes an allergic response in people with celiac disease.
• An abnormal heartbeat. Heart issues are common in people with Turner syndrome. In patients with the condition, high blood pressure and problems with the aorta, the main artery linking the heart and the rest of the body, should be monitored.
• Lymphedema. Patients with Turner syndrome typically have lymphedema, or swelling from fluid retention, in their hands and feet.

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