What Is Turner Syndrome?
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 physical features.
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
- 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. 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.
Other health problems that may happen with TS include kidney and heart problems, high blood pressure, obesity, diabetes mellitus, thyroid problems, and abnormal bone development.
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.