Turner syndrome (patient information)

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Turner Syndrome
ICD-10 Q96
ICD-9 758.6
DiseasesDB 13461
MedlinePlus 000379
MeSH D014424

Turner syndrome

Overview

What are the symptoms?

What are the causes?

Who is at highest risk?

Diagnosis

When to seek urgent medical care?

Treatment options

Where to find medical care for Turner syndrome?

Prevention

What to expect (Outlook/Prognosis)?

Possible complications

Turner syndrome On the Web

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Turner syndrome in the news

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Directions to Hospitals Treating Turner syndrome

Risk calculators and risk factors for Turner syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor(s)-In-Chief: Alexandra M. Palmer

Overview

Turner syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes.

What are the symptoms of Turner syndrome?

Possible symptoms in young infants include:

  • Swollen hands and feet
  • Wide and webbed neck

A combination of the following symptoms may be seen in older females:

  • Absent or incomplete development at puberty, including sparse pubic hair and small breasts
  • Broad, flat chest shaped like a shield
  • Drooping eyelids
  • Dry eyes
  • Short height

What causes Turner syndrome?

Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).

In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.

Turner syndrome occurs in about 1 out of 2,000 live births.

Who is at highest risk?

Turner syndrome is a genetic condition that only occurs in females. Females with a family history of Turner syndrome are at risk.

Diagnosis

Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if chromosome analysis is done during prenatal testing.

The doctor will perform a physical exam and look for signs of underdevelopment. Infants with Turner syndrome often have swollen hands and feet.

The following tests may be performed:

Turner syndrome may also alter various estrogen levels in the blood and urine.

When to seek urgent medical care?

Treatment options

Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, pubic hair, and other sexual characteristics.

Women with Turner syndrome who wish to become pregnant may consider using a donor egg.

Where to find medical care for Turner syndrome?

Directions to Hospitals Treating Turner syndrome

Prevention of Turner syndrome

There is no known way to prevent Turner syndrome.

What to expect (Outlook/Prognosis)?

Those with Turner syndrome can have a normal life when carefully monitored by their doctor.

Possible complications

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/000379.htm


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