Turner Syndrome: Signs, Symptoms, Treatment

What is Turner Syndrome?

Turner Syndrome (TS) is also known as 45, X, or 45, XO is a genetic condition that affects the development of females. It affects 1 in every 2500 females, females who have this rare genetic disorder are usually shorter than average which becomes evident at the age of 5 and also there will be a loss of ovarian function which is very common in females who are effected with Turner syndrome (TS).

What Causes Turner Syndrome?

It is a result of chromosomal abnormality.

Generally, a human has 46 chromosomes in each cell, divided into 23 pairs, which include two sex hormones in that half of the chromosomes are received from the father and half from the mother. These chromosomes contain genes that decide individual characteristics which include height, eye color, etc, females generally have two X hormones (xx) but females with Turner Syndrome have only one X chromosome.

Turner syndrome is the result of random error in cell division that happens when a parent cells are being formed

Signs and Symptoms of Turner Syndrome

1. Females with this disorder may grow only up to 4 feet 7 inches

2. Low hairline at the back of the head

3. The webbing of the skin over the neck (extra folds of skin that grows from the top of the shoulders to sides of the neck)

4. Low set ears

5. Abnormal eye features that include drooping of the eyelids

6. Less bone development, especially on hands and elbows

7. Lack of breast development at the required age (13)

8. Amenorrhea(Absence of menstruation)

9. Number of moles on the skin

Other Problems include:

Females with Turner Syndrome have lack of ovarian development. Ovaries are responsible for hormones that control breast growth and menstruation, most of the females with this disorder will never undergo the changes associated with puberty until unless they get hormone therapy, and also remain infertile and unable to conceive without the hormone therapy.

Turner Syndrome also leads to kidney problems, heart disorders, hypertension, obesity, diabetes mellitus, problems in vision, thyroid and abnormal bone development.

And some people with Turner Syndrome have learning problems, struggle in the visual organization, hearing problems, problems with body image and self-esteem.

How Turner Syndrome Diagnosed?

Females with Turner syndrome are usually diagnosed at their birth or during their puberty, if the symptoms are identified by a doctor he may suggest a special blood test called a karyotype, this test counts the number of chromosomes and identifies if any abnormal shape or have any missing pieces.

Sometimes there will be no clear signs to show the disorder only it gets noticed when she reaches her puberty

If the karyotype blood test shows positive results of Turner syndrome, the doctor may suggest an additional test which includes kidney, heart, hearing, and other problems that often associated with Turner syndrome.


Just because it’s a chromosomal disorder, there is no cure for this disease, but some treatments can help to treat the symptoms of Turner Syndrome:

1. Growth Hormone: With this treatment, there are few chances to grow up to a certain level.

2. Estrogen Replacement Therapy: With this treatment, a female with Turner Syndrome may develop the physical changes of puberty, including breast development and menstrual periods, this can be given at the age of 12-13.

3. Cardiac Surgery: This can be given to correct heart defects.

4. Reproductive Technologies: this can help women with Turner Syndrome to become pregnant that can be possible with Vitro fertilization, donor eggs are used to create embryos these can be inserted into the uterus of a woman with Turner syndrome.

Written by MedPlus