Turner syndrome is a genetic
condition found in females only. It affects about 1 in every 2,500 girls.
Girls who have this condition usually are shorter than average and infertile due
to early loss of ovarian function.
What Causes Turner Syndrome?
Turner syndrome (TS) is the result of a chromosomal abnormality.
Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which
includes two sex chromosomes. Half of the chromosomes are inherited from the father
and the other half from the mother. The chromosomes contain genes, which determine
an individual's characteristics, such as eye color and height. Girls typically have
two X chromosomes (or XX), but girls with Turner syndrome have only one X chromosome
or are missing part of one X chromosome.
Turner syndrome is not caused by anything the parents did or did not do. The disorder
is a random error in cell division that happens when a parent's reproductive cells
are being formed.
Girls born with the X condition in only some of their cells have mosaic
Turner syndrome. Often, their signs and symptoms are milder than those of
other girls with the X condition.
The condition is named for Dr. Henry Turner, an endocrinologist, who in 1956 noted
a set of common physical features in some of his female patients.
What Are the Signs & Symptoms of Turner Syndrome?
Most girls with Turner syndrome who don't get treatment are shorter than their
peers, with an average final adult height of 4 feet 7 inches, and may have other related
These can include:
"webbing" of the skin of the neck (extra folds of skin extending from the tops
of the shoulders to the sides of the neck)
a low hairline at the back of the head
abnormal eye features, including drooping of the eyelids
abnormal bone development, especially the bones of the hands and elbows
a lack of breast development at the expected age (usually by age 13)
Girls who have Turner syndrome don't have typical ovarian development. So they
usually won't develop all of the secondary sexual characteristics (the physical changes
that usually happen in puberty)
and are infertile (can't become pregnant) as adults. However, advances in medical
technology, including hormonal therapy and in vitro fertilization, can help women
with this condition.
Girls with Turner syndrome usually have normal intelligence, but some may have
learning problems, particularly in math. Many also struggle with tasks requiring spatial
skills, such as map reading or visual organization. Hearing
problems are more common in girls with TS.
They aren't at increased risk for psychological problems, but some girls do have
problems with body image or self-esteem
and some also might have ADHD.
Despite these physical differences and other problems, with the right medical care,
early intervention, and ongoing support, a girl with Turner syndrome can lead a normal,
healthy, and productive life.
How Is Turner Syndrome Diagnosed?
During a physical exam, a doctor may look for the physical features of Turner syndrome.
These can vary widely — some girls with TS have many features or symptoms; others
have only a few.
Doctors use a special blood test that looks at chromosomes — a karyotype
— to diagnose Turner syndrome. Results that indicate TS show 45 chromosomes
instead of the normal 46. Some girls have two X chromosomes, but one is misshapen
or missing a piece.
How Is Turner Syndrome Treated?
Because TS is a chromosomal disorder, there's no cure for the condition. But a
number of treatments can help:
Growth hormone, either alone or with other hormone treatment,
may improve growth and will usually increase final adult height — often into
the normal range if treatment is started early enough. The U.S. Food and Drug Administration
(FDA) has approved growth hormone for the treatment of Turner syndrome, and most insurance
plans now cover this special treatment.
Estrogen replacement therapy often begins when a girl is
12 or 13 years old to stimulate the development of secondary sexual characteristics
(breast development and menstrual periods). This therapy will not reverse infertility,
Cardiac surgery may be necessary to correct specific heart defects.
Reproductive technologies can help women with Turner syndrome
become pregnant. Fertilized donor eggs are used to create embryos, which can be inserted
into the uterus of a woman with TS. With the help of hormone treatment, the woman
can carry a developing fetus to term.
Early consultation with a developmental pediatrician and screening for cognitive
issues may help girls with Turner syndrome who have learning problems. A special set
of tests (called psychoeducational evaluation) can identify specific
problems. A girl's doctor can help determine whether this testing is appropriate for
It's important to assess a girl's intellectual, learning, motor skills, and social
maturity before kindergarten. If learning problems are found, early preventive and
intervention strategies can help.
Girls with Turner syndrome might have specific medical problems and different physical
characteristics. But you can help your daughter develop daily living skills and cope
with new or challenging situations.
Follow her lead on how much information she wants to share. Make sure she knows
the facts and then allow her to explain TS to her friends and relatives, if she wants.
Treat her according to her age (not her size) when considering how much responsibility
you give her and the types of social activities she enjoys.
Arrange your home so that it's comfortable for her (provide sturdy footstools
in the bathroom and kitchen and easy access to clothing, closets, personal care items,
and other necessities). Kitchen chairs or stools that have rungs are especially helpful,
as it can be tiring for her if her feet don't reach the floor.
Check her classroom environment. Ask for help from teachers to provide the right
accommodations so that she can reach water fountains, classroom materials, and supplies.
Help her cope with new situations and encourage her to ask her friends for help.
Compliment her often on her strengths and coping skills. Be patient, positive,
and open to discussions about her limitations and fears.
Encourage participation in activities in which height isn't an issue, such as
skating, diving, horseback riding, babysitting, or volunteer
work. Volunteering, in particular, can be a big confidence booster.
If she's depressed
or has self-esteem problems, consider counseling with a mental health professional.
Don't ignore your instincts if you think she's sad or withdrawn.
Take care of yourself. You won't be able to provide good care for your daughter
if you neglect your own needs.
(Note: height-related issues may be less important to girls who have improved growth
with growth hormone treatment.)
Remember that although Turner syndrome can affect your daughter in many ways, it's
only a small part of her total physical, emotional, and intellectual being. Don't
hesitate to enlist the help of her doctor, developmental pediatrician, or other medical
specialists and mental health professionals.