What Is Turner Syndrome?

Turner syndrome, a condition that only affects women, occurs when a sex chromosome (X chromosome) is missing or partially absent. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure to enter puberty, infertility, heart defects, certain learning disabilities, and societal adjustment problems.

Turner syndrome can be diagnosed before birth, in infancy, or in early childhood. Diagnosis is sometimes delayed until early teens or young adults in those with mild symptoms and signs of Turner syndrome. Almost all women with Turner syndrome need constant medical care from a variety of specialists. Regular checkups and proper care can help most girls and women start living relatively healthy and independent lives. Signs and symptoms of Turner syndrome can vary significantly.

A prenatal ultrasound of a baby with Turner syndrome may show:

• Large retention of fluid in the back of the neck or other abnormal fluid collections
• Heart abnormalities
• Abnormal kidneys
• At birth or in infancy
• In some girls, certain physical characteristics and insufficient growth appear early. Signs of Turner syndrome at birth or in infancy may include:
• Wide neck
• Retracted or small lower jaw
• High, narrow roof of the mouth (palate)
• Low-set ear
• Low hairline on the back of the head
• Widely spaced nipples
• Short fingers and toes
• Arms that rotate outward from the elbows
• Narrow and upward nails and toenails
• Swelling of the hands and feet, especially at birth
• Slightly smaller than average height at birth
• Delayed growth

For some girls, the presence of Turner syndrome may not be easily understood. Signs and symptoms in older girls, teens, and young women that may signal Turner syndrome include:

• With late learning, especially learning involving spatial concepts or mathematics, intelligence is usually normal
• Difficulty in social situations, such as problems understanding the emotions or reactions of others
• Failure to begin the expected sexual change during puberty – either at birth or due to ovarian insufficiency that occurs gradually during childhood, adolescence or young adulthood
• Sexual development that “stops” during the teenage years

Situations in which a doctor should be consulted:

Sometimes it is difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. Therefore, it is important to receive fast, accurate diagnosis and proper care. Consult your doctor if you believe your daughter is showing signs of Turner syndrome or if you have concerns about your physical, sexual, or behavioral development.

What are the causes of Turner syndrome?

Most people are born with two sex chromosomes. A child inherits the X chromosome from his mother and the Y chromosome from his father. A girl inherits one X chromosome from each parent. If a girl has Turner syndrome, one copy of her X chromosome is missing or significantly altered.

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

A complete lack of an X chromosome is usually caused by an error in the father’s sperm or the mother’s egg. This results in each cell in the body having only one X chromosome.
In some cases, an error occurs in cell division in the early stages of fetal development. This causes some cells in the body to have two copies of the X chromosome. Other cells have only one copy of the X chromosome, or one complete and one altered copy.

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 girls, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Impact of chromosomal errors

The missing or altered X chromosome of Turner syndrome causes errors during fetal development and other developmental problems after birth — short stature, ovarian failure and learning difficulties. The physical characteristics and health complications resulting from a chromosomal error vary significantly.

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