Turner's syndrome
| Turner syndrome | |
|---|---|
| Synonyms | Ullrich–Turner syndrome, gonadal dysgenesis, 45X, 45X0 |
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| Girl with Turner syndrome before and after an operation for neck-webbing | |
| Classification and external resources | |
| Specialty | Pediatrics, medical genetics |
| ICD-10 | Q96 |
| ICD-9-CM | 758.6 |
| DiseasesDB | 13461 |
| MedlinePlus | 000379 |
| eMedicine | ped/2330 |
| Patient UK | Turner syndrome |
| MeSH | D014424 |
| Orphanet | 881 |
Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they only develop menstrual periods and breasts with hormone treatment, and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization that may be needed for mathematics. Vision and hearing problems occur more often.
Turner syndrome is not usually inherited from a person's parents. No environmental risks are known, and the mother's age does not play a role. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.
No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.
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