What Is Turner Syndrome?
Turner syndrome (TS) is a genetic condition found in females only. It affects about
1 in every 2,500 girls.
Girls with Turner syndrome are usually shorter than their peers. The good news
is that if TS is diagnosed while a girl is still growing, she can be treated with
growth hormones to help her grow taller.
Early loss of ovarian function means that girls with TS also are infertile (can't
become pregnant). However, advances in medical technology, including hormonal therapy
and in vitro fertilization, can help women with this condition.
Girls with TS are all different. Some may have many physical differences and symptoms,
whereas others have only a few medical problems. With the right medical care, early
intervention, and ongoing support, a girl with Turner syndrome can lead a normal,
healthy, and productive life.
What Causes Turner Syndrome?
Turner syndrome 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 a girl's 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.
They can have other related physical features, such as:
- "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
- low-set ears
- 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)
- an absence of menstruation (amenorrhea)
- a larger than usual number of moles on the skin
What Problems Can Happen?
Girls who have Turner syndrome don't have typical ovarian development. Because
the ovaries are responsible for making the hormones that control breast growth and
menstruation, most girls with TS will not go through all of the changes associated
with puberty unless they
get treatment for the condition. Nearly all girls will be infertile, or unable to
become pregnant on their own.
Other health problems that may happen with TS include kidney problems, heart problems,
high blood pressure,
obesity, diabetes
mellitus, vision problems, thyroid problems, and abnormal
bone development.
Some girls with TS 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, as is ADHD.
Some girls also have problems with body
image or self-esteem.