Turner Syndrome - Causes, Symptoms and Treatment

What Is Turner Syndrome?

Turner syndrome, also called 45 XY disorder, is a genetic condition in which one of the person's sex chromosomes is missing. People with Turner syndrome are born with an average-sized body but are unable to produce viable sperm or eggs. Because they cannot get pregnant, people who have this condition are often infertile due to other causes. Turner syndrome affects about 1 in 2,500 girls worldwide.

What Causes Turner Syndrome?

The exact cause of Turner Syndrome is unknown but experts believe it happens when there's a problem during the formation of the egg before conception occurs.

The syndrome is caused by a chromosomal problem called monosomy X, "mono" meaning one, and "some" meaning body. People who have this condition have one sex chromosome too few in comparison to other people.

Sex chromosomes are the chromosomes that determine whether a person is male or female. The 23rd pair of chromosomes, which are called sex chromosomes or X-chromosomes, determine the gender in humans.

The normal number of chromosomes in each cell varies from species to species but humans have 23 pairs of them with two sex chromosomes—one inherited from the mother and another from the father. Females have two X-chromosomes (XX) while males have an X and a Y (XY). Turner syndrome happens when the person has one X-chromosome instead of two.

A chromosome is a thread-like structure within each cell that contains all the genetic information for that cell. Chromosomes come in pairs—a girl would have two X-chromosomes, for example, while a boy would have an X and a Y protein. The female sex chromosome is called the "female" or "XX" chromosome because it carries the ovum.

When chromosomal mistakes happen during cell division at conception, there are problems with chromosomal development at birth if the baby develops outside of the normal body temperature range due to lack of oxygen or other factors before it can reach full term.

What Are The Symptoms of Turner Syndrome?

·    typically present at birth

·    head shape is normal, but the face is thin or flat or has a sloping forehead (symptomatic)

·    at least two blue eyes, no more than four pink eyes. Blue-eyed people are more likely to have Turner syndrome than those with brown eyes. If a girl does not have blue eyes, she may have mild changes in her face that are not noticeable to others. She may also have less hair or have hair that grows in unusual patterns. Curly hair texture is also typical for women with Turner syndrome. For example, women with this condition usually have very curly hair that tends to stick out from the scalp in different directions.

The presence of a webbed neck may also be a symptom of Turner's syndrome.

Short stature is one of the most noticeable symptoms of Turner syndrome. It occurs in 95 percent of girls with the condition. In general, people with this condition are abnormally short or have an average height, if any.

If a person with Turner syndrome is tall, it's probably because another gene passed from her parent makes her so. Though both parents have normal chromosome counts, they can pass a monosomy X chromosome to their children during conception or the first stages of pregnancy.

Turner syndrome is sometimes mistaken for short stature that occurs as a result of another genetic disorder, such as skeletal dysplasia or dyschondrosteosis.

Treatment of Turner Syndrome

Treatment for Turner syndrome depends on the symptoms. Some girls who have this condition need treatment for related problems such as heart problems, kidney or urinary tract abnormalities, and low thyroid function.

Genetic counseling can help women who have Turner syndrome prepare for issues they may face during pregnancy and childbearing.

Surgery may be used to correct health problems such as cleft palate or webbed neck. However, it is not a cure. Children who have surgery should receive follow-up care to make sure their airway and other medical conditions related to their syndrome stay under control.

Frequently Asked Questions on Turner syndrome

Is There Any Treatment Available?

There is no cure for Turner syndrome, but several treatments are available to help manage the symptoms. For example, arginine supplements may improve growth. Some girls with Turner syndrome grow normally until puberty, while others stop growing in childhood.

Girls who stop growing before puberty usually remain short throughout their lives. Monitoring height on an annual basis can determine whether or not treatment is working. Hormone replacement therapy (HRT), which involves taking estrogen-like drugs that stimulate growth in young girls with Turner syndrome, can be used to help them reach a normal height if they have stopped growing before the age of 9 or 10 years old.

What Is The Treatment For Heart Disease In Turner Syndrome?

Girls and women with Turner syndrome may be at increased risk of developing cardiovascular (heart) problems. Your doctor may suggest that you have regular checkups to screen for heart disease, including:

·    an electrocardiogram (ECG/EKG), which measures your heart's electrical activity by putting several electrodes on your chest and legs and attaching wires from these electrodes to a machine that records the heart's activity

·    echocardiography, which uses sound waves to create moving images of your heart's structures and movements

·    Most women with Turner syndrome don't develop significant health problems related to their low estrogen levels until they are older than 30 years old.