What type of people are likely to have Turner syndrome?
Turner syndrome is a genetic condition found in females only. It affects about 1 in every 2,500 girls. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function.
What does it mean if someone has 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.
When is Turner syndrome usually diagnosed?
Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.
How do doctors diagnose Turner syndrome?
A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. This test requires a blood draw. It can determine whether one of the X chromosomes is fully or partially missing. A complete heart evaluation is also part of diagnosis.
What genetic error causes Turner syndrome?
Turner syndrome is caused by partial or complete loss (monosomy) of the second sex chromosome. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual and they come in pairs.
Can you get pregnant with Turner’s syndrome?
Spontaneous puberty occurs in 5-10% of women with Turner’s syndrome, and 2-5% of them become pregnant spontaneously. Sexually active young women with Turner’s syndrome need contraception. It can be administered as contraceptive pills, which also serve as HRT.
Why does Turner syndrome only affect females?
The condition only occurs in females. Most commonly, a female with Turner syndrome has only 1 X chromosome. Others may have 2 X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with 2 X chromosomes, but other cells have only 1.
Can Turner syndrome be misdiagnosed?
The discrepancies between the blood and skin karyotypes found in our patients mean that previous cases of Turner’s syndrome have been undiagnosed or misdiagnosed. We suggest that in some cases of Turner’s syndrome the abnormal cell lines die out in the bone marrow, thereby leaving the 46, XX cell line.
Is Turner syndrome a disability?
Is Turner syndrome considered a disability? Turner syndrome is not considered a disability, although it can cause certain learning challenges, including problems learning mathematics and with memory. Most girls and women with Turner syndrome lead a normal, healthy, productive life with proper medical care.
Can Turner syndrome be detected in ultrasound?
Turner syndrome may be suspected by prenatal cell-free DNA screening or certain features may be detected on prenatal ultrasound screening. Prenatal diagnostic testing can confirm the diagnosis.
Can Turner syndrome be cured?
There’s no cure for Turner syndrome but many of the associated symptoms can be treated.
What happens in the body to cause Turner syndrome?
Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl’s body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.