Is Turner Syndrome?
The human body typically contains
46 (or 23 paired) chromosomes that store your genetic material. The X and Y sex
chromosomes determine your gender. The male sex has one X and one Y chromosome.
The female sex has two X chromosomes.
Turner syndrome is a genetic
condition caused by an abnormality on one of your sex chromosomes. It’s also
called monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome. The
condition is found only in the female gender.
Turner syndrome occurs when part
or all of one of your X chromosomes is missing. This condition affects
approximately 1 out of 2,000 live female births.
People with Turner syndrome can
lead healthy and normal lives. But they typically require some ongoing and
consistent medical supervision to treat and detect complications that might
There is no way to prevent Turner
syndrome, and the cause of the genetic abnormality is unknown.
Are the Symptoms of Turner Syndrome?
Females with Turner syndrome
exhibit certain physical characteristics at birth and in childhood, including:
hands and feet (in infants)
- a high
- low-set ears
- flat feet
Females with this condition may
also have other medical problems associated with Turner syndrome, including:
with sexual development
- hearing loss
- high blood
- dry eyes
- frequent ear
These symptoms can appear either
early in infancy or, in the case of sexual development and fertility issues,
later in adolescence.
Having one or more of these
symptoms doesn’t necessarily mean that Turner syndrome exists. It’s important
for a young female or adolescent suspected of having this syndrome to be seen
by a doctor for a thorough examination and accurate diagnosis.
Is Turner Syndrome Diagnosed?
Using prenatal genetic testing,
Turner syndrome can sometimes be diagnosed before birth. The condition can be
identified through karyotyping. When performed during prenatal testing,
karyotyping is a laboratory analysis of the mother’s chromosomes that can
detect genetic abnormalities.
Your doctor may also order tests
to look for the physical symptoms of Turner syndrome. These tests may include:
- blood tests
to check sex hormone levels
echocardiogram to examine for heart defects
- a pelvic
- a pelvic and
- a chest MRI
There Complications from Turner Syndrome?
Individuals with Turner syndrome
are at a higher risk for certain medical problems. Luckily, with appropriate
monitoring and regular checkups, complications can be managed.
common. Some females with Turner syndrome can also have recurrent urinary tract
infections and the kidneys may be malformed or in the wrong position in the
body. These abnormalities can increase the risk of high blood pressure.
is a condition in which there are
low levels of thyroid hormone, and is another possible complication. It’s
caused by the inflammation of the thyroid gland and can be treated with
supplemental thyroid hormone.
Individuals with Turner syndrome
have a higher-than-average risk of developing celiac disease. Celiac disease causes the body to have an allergic
reaction to the protein gluten, found in foods like wheat and barley.
common in individuals with Turner syndrome. People with the condition should be
monitored for problems with their aorta and high blood pressure.
Obesity may be a complication for some
individuals with Turner syndrome. Obesity can increase the risk of developing
with Turner Syndrome
You can still lead a healthy and
happy life if you’re diagnosed with Turner syndrome. Though there is no cure,
there are treatments available that can ease your symptoms and improve your
quality of life.
Growth hormone injections may
help children with Turner syndrome to grow taller. Hormone therapy can also aid
in the development of secondary sex characteristics like breasts and pubic
hair. It’s usually administered at the start of puberty.
Women who are infertile because
of Turner syndrome can use a donor egg to get pregnant. Your gynecologist can
refer you to a fertility specialist who can help you choose the best option for
Finding a support group for
females with the condition or talking to a counselor can help you with any
emotional difficulties you encounter as a result of your condition.