Best answer: 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 Turner syndrome and not know it?

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 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.

Does Turner syndrome happen randomly?

Turner syndrome is the most common sex chromosomal disorder affecting girls and women. TS happens when the X chromosome is completely or partially missing. It’s a sporadic problem, meaning it happens randomly.

Are there varying degrees of Turner syndrome?

There are 2 types of Turner syndrome: monosomy X TS and mosaic TS. About half of all girls with Turner syndrome have a monosomy disorder.

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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.

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.

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.

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 early can Turner syndrome be detected?

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.

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Why is Turner syndrome called Turner syndrome?

Turner syndrome is named for Henry Turner who, in 1938, was one of the first doctors to report on the disorder in the medical literature. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females.

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