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.
Can you have Turner syndrome and not know it?
Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent , but in other girls, a number of physical features and poor growth are apparent early.
Can Turner syndrome go undiagnosed?
In some cases, the disorder is diagnosed before birth or shortly after birth. However, mild cases can remain undiagnosed until later in life and even during adulthood .
Why would someone get tested for Turner syndrome?
A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck , a broad chest and widely spaced nipples. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet.
Who is most likely to get Turner syndrome?
Turner syndrome (TS) is a genetic condition found in females only . It affects about 1 in every 2,500 girls. Girls with Turner syndrome are usually shorter than their peers.
Can a woman with Turner’s syndrome have a baby?
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.
What is the lifespan of someone with Turner syndrome?
What is the long-term outlook for people with Turner syndrome? The long-term outlook ( prognosis ) for people with Turner syndrome is typically good. Life expectancy is slightly shorter than average but may be improved by addressing and treating associated chronic illnesses, such as obesity and hypertension .
What actress has Turner syndrome?
Actress Linda Hunt and gymnast Misty Marlowe, Scottish actress Janette Cranky have Turner’s syndrome.
Can Turner syndrome be missed?
While 95% of girls with Turner syndrome have short stature, many have few or no other phenotypic features, often resulting in late or missed diagnosis .
How do you test for Turner’s 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.
How does a person inherit Turner syndrome?
Most cases of Turner syndrome are not inherited . When this condition results from monosomy X , the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person’s parent.
How often is Turner syndrome misdiagnosed?
However, it is a rare disease, affecting just 1 in every 2,000 live births approximately. Rare diseases as a whole are often misdiagnosed due to a lack of understanding on the part of both parents, caregivers, and medical professionals.
Does CVS test for Turner’s syndrome?
What kind of problems does CVS diagnose? Like amniocentesis, CVS can identify: Nearly all chromosomal abnormalities, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities (such as Turner syndrome). The test can diagnose these conditions , but it can’t measure their severity.
Can a boy have Turner syndrome?
Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal dis- order. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported .
How many babies survive Turner syndrome?
1 Yet according to research, monosomy X is present in 1–2% of all conceptions, but about 99% of affected babies are miscarried or stillborn.
Do Turner syndrome have periods?
About 2-5% of individuals with Turner syndrome have spontaneous periods and have the potential to achieve pregnancy without medical intervention. However, many affected women have absent or decreased ovarian function and need hormone therapy to achieve their period.
