Answers to questions families often have about caring for their child with Turner syndrome (TS)

Turner syndrome (TS) is a genetic condition caused by full or partial loss of the second sex or gender-determining chromosome. Only females can have Turner syndrome. Most girls with TS will have normal intelligence but may have social immaturity, attention-deficit disorder, and specific learning disabilities. Many girls with TS have some of the characteristics listed in the section below.

Some females with TS look completely normal except for their short stature. Girls with more severe TS, particularly heart and kidney defects, may be diagnosed early whereas others may not be diagnosed until adolescence when they don’t start their menstrual periods.

Features of TS include short stature, heart defects, ovarian insufficiency, and problems with other organs. Other common characteristics of TS are:

• Prominent, low-set ears
• High, narrow roof of mouth
• Small jaw
• Neck webbing or wide neck
• Scoliosis
• Multiple birthmarks

Additional symptoms can be found on the Turner Syndrome Society of the United States website.

The diagnosis of TS is based on having short stature and other characteristics listed in the section above. The diagnosis is confirmed by a blood test that examines your child's chromosomes.

On average, the life expectancy of people with TS is about 13 years shorter than that of the general population. Heart disease and type 2 diabetes may reduce life expectancy, though optimal medical care can reduce the impact of those diseases.

The risk of the same parents having a second child with TS is no greater than that of the general population (1/2500 girls). Other family members aren't affected and it is not inherited.

While there are no specific therapies for TS, there are many treatments to help with symptoms. For example, human growth hormone may be used for short stature and hormonal therapies may be used to start puberty.

Other potential features of this condition need to be monitored on a regular basis. For example, poor thyroid function and diabetes is common.

How your child will be affected depends on the severity of the condition. Some girls with TS will have only short stature, while others may have more severe problems that need medical treatment.

The best time to begin growth hormone therapy varies. It is usually started when a child's growth rate slows down compared to other children. Your pediatric endocrinologist will closely monitor your child's growth and make recommendations based upon her growth patterns.

Recent data shows that starting puberty with estrogen at age 12 allows a normal pace of puberty without interfering with the effect of growth hormone on height.

Most girls and women with TS have normal intellectual development and are able to complete high school; some go on to higher education. While attention deficit disorder and other learning problems are common, educational support can help people with TS meet their academic and vocational goals.

Though most women with Turner syndrome are infertile, some females may become pregnant with or without reproductive technology such as in vitro fertilization (IVF). Problems with the heart and aorta may make pregnancy risky. If pregnancy is being considered, a full cardiac evaluation should be performed. Women with a repaired heart defect, abnormal aortic valve, dilated aorta, or hypertension should probably not become pregnant. [Bondy: 2007]