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Turner syndrome is a genetic disorder that affects a girl's development and appearance. It can also cause health problems, including infertility and heart problems.
What causes it
Chromosomes are tiny packages in our cells that hold our genes — the DNA that controls how we look and how the body works. A girl normally gets one X chromosome from each parent. Turner syndrome happens when one of the two X chromosomes is partly or completely missing.
Signs and health problems
Symptoms vary: mild for some, serious for others.
- Height. Most people with Turner syndrome are shorter than average.
- Appearance. Some have a short neck with extra skin (a "webbed" neck), a low hairline at the back, low-set ears, or swollen hands and feet.
- At birth. Some are born with heart or kidney defects.
- Development. Most do not go through typical sexual development and are infertile.
- Later risks. High blood pressure, type 2 diabetes, osteoporosis and thyroid problems.
Diagnosis
Health care providers diagnose it from the symptoms and a genetic blood test called a karyotype. Sometimes it is found by prenatal testing.
Treatment
There is no cure, but several symptoms can be treated:
- Hormone injections, if started in early childhood, can often add a few inches of adult height.
- Estrogen replacement therapy can start sexual development and protects against bone loss.
- Assisted reproduction can help some women with Turner syndrome become pregnant.
People with Turner syndrome need regular checkups and a care team that includes specialists for the health problems it causes.
Sources
- MedlinePlus, U.S. National Library of Medicine, "Turner Syndrome," drawing on the NIH National Institute of Child Health and Human Development. https://medlineplus.gov/turnersyndrome.html
- Rewritten in hubnx's own words.
Лицензия: CC0 1.0 (общественное достояние) · По материалам medlineplus.gov
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