Turner syndrome

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.

Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.

Before birth

Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening — a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother — or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:

• Large fluid collection on the back of the neck or other abnormal fluid collections (edema)
• Heart abnormalities
• Abnormal kidneys

At birth or during infancy

Signs of Turner syndrome at birth or during infancy may include:

• Wide or weblike neck
• Low-set ears
• Broad chest with widely spaced nipples
• High, narrow roof of the mouth (palate)
• Arms that turn outward at the elbows
• Fingernails and toenails that are narrow and turned upward
• Swelling of the hands and feet, especially at birth
• Slightly smaller than average height at birth
• Slowed growth
• Cardiac defects
• Low hairline at the back of the head
• Receding or small lower jaw
• Short fingers and toes

In childhood, teens and adulthood

The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:

• Slowed growth
• No growth spurts at expected times in childhood
• Adult height significantly less than might be expected for a female member of the family
• Failure to begin sexual changes expected during puberty
• Sexual development that "stalls" during teenage years
• Early end to menstrual cycles not due to pregnancy
• For most females with Turner syndrome, inability to conceive a child without fertility treatment

Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation.

Most people are born with two sex chromosomes. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent. In females who have Turner syndrome, one copy of the X chromosome is missing, partially missing or changed.

The genetic changes of Turner syndrome may be one of the following:

• Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome.
• Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.
• X chromosome changes. Changed or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the changed or missing parts of one of the X chromosomes (mosaicism).
• Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Effects of the missing or changed chromosome

The missing or changed X chromosome of Turner syndrome causes problems during fetal development and other developmental problems after birth — for example, short stature, ovarian insufficiency and heart defects. Physical characteristics and health complications that arise from these chromosomal issues vary greatly.

The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.

Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.

Turner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur include:

• Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body.
• High blood pressure. Turner syndrome can increase the risk of high blood pressure — a condition that increases the risk of developing diseases of the heart and blood vessels.
• Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.
• Vision problems. An increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems can occur with Turner syndrome.
• Kidney problems. Turner syndrome may be associated with malformations of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of urinary tract infections.
• Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. There is also an increased risk of diabetes. Sometimes Turner syndrome is associated with gluten intolerance (celiac disease) or inflammatory bowel disease.
• Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Turner syndrome can also increase the risk of developing weak, brittle bones (osteoporosis).
• Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory and attention.
• Mental health issues. Girls and women with Turner syndrome may have challenges functioning in social situations, may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
• Infertility. Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment.
• Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.