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. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.
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.
Can you have mild Turner’s syndrome?
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. Mosaicism can occur, leading to a milder presentation and often making recognition of the condition more difficult.
Is Turner syndrome noticeable at birth?
Diagnosis of Turner’s syndrome
before birth (prenatally) – usually if an amniocentesis has been performed or abnormalities are seen during an ultrasound. at birth – due to certain physical features. in childhood – when the young girl doesn’t grow at a similar rate to her peers.
How do you rule out 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 are three symptoms of Turner’s syndrome?
Signs of Turner syndrome at birth or during infancy may include:
- Wide or weblike neck.
- Low-set ears.
- Broad chest with widely spaced nipples.
- High, narrow roof of the mouth (palate)
- Arms that turn outward at the elbows.
- Fingernails and toenails that are narrow and turned upward.
What is the life expectancy for 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 .
Can a woman with Turner’s syndrome have a baby?
Most women with Turner syndrome cannot get pregnant naturally. Those who can are at risk for blood pressure-related complications, which can lead to premature birth or fetal growth restriction. Pregnancy also is associated with increased risk for maternal complications, including aortic dissection and rupture.
Who is most likely to get 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.
Is Turner syndrome like Down syndrome?
Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed.
When are girls diagnosed with Turner syndrome?
As height and sexual development are the 2 main things affected, Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty, usually between the ages of 8 and 14 years. Other characteristics of Turner syndrome can vary significantly between individuals.
How do you test for Turners syndrome?
Karyotyping is a test that involves analysing the 23 pairs of chromosomes. It’s often used when Turner syndrome is suspected. The test can either be carried out while the baby is inside the womb – by taking a sample of amniotic fluid (amniocentesis) – or after birth by taking a sample of the baby’s blood.
Can Turner syndrome be seen on ultrasound?
Sonography has been the most effective tool in diagnosing Turner syndrome prenatally.