About
Turner Syndrome
For those with Turner Syndrome (TS), their families, friends, and expectant parents, TS is a medical condition introducing unique challenges, rewards, and mysteries.
The Turner Syndrome Society is here to support you on this journey! With a community of over 14,000 members, friends, and professionals, we look forward to getting to know you and assisting with your TS-related needs.
What is Turner Syndrome?
Turner Syndrome (TS) is a genetic condition that occurs in females when one of the two X chromosomes is completely or partially missing. This can lead to various developmental, physical, and medical challenges, including short stature, delayed puberty, heart defects, and infertility. TS affects approximately 1 in every 2,000 to 4,000 females and can be diagnosed at birth, during childhood, or later in life. Despite these challenges, those with TS should expect to lead healthy and fulfilling lives with appropriate medical care and support.
In the United States, although rare, biological males are diagnosed with Turner syndrome. International experts agree that biological males should not be diagnosed with Turner syndrome but use their karyotype as their diagnosis. TSSUS welcomes and supports anyone with a TS diagnosis and their family.
It’s estimated that one female out of every 2,000 to 4,000 are born with Turner syndrome. Turner syndrome occurs in 1-2% of conceptions and, unfortunately, only 1% of those survive through pregnancy. We consider every child and adult with TS a real miracle.
TS occurs when all or part of one of the second sex chromosomes is missing or abnormal before or soon after conception. For example, most females have two X sex chromosomes (XX) and most males have one X and one Y sex chromosome (XY). In Turner syndrome, it’s important to understand that research has not discovered any factors related to the conception of a child with Turner syndrome, such as the age of a parent, ethnicity, diet, or activities during pregnancy. Please also refer to our TS Guide for Families, pages 3-6.
Due to our relentless awareness efforts, TS is now most often diagnosed during pregnancy and infancy. During childhood, slow growth and chronic ear infections serve as a clue to investigate a TS diagnosis. During the teenage years, if a young lady does not have a period as expected, doctors may investigate and discover TS. Although not as common, TS may be diagnosed at any age. If someone over 50 years old believes they have TS, a doctor can conduct additional tests to confirm the diagnosis. Each person is unique and may have a combination of common traits, health conditions, and/or developmental issues.
Most people with TS believe that their lives would be different if they didn’t have TS, but not necessarily better.
The following characteristics are associated with TS, but it's essential to remember that you will not exhibit every characteristic, and some individuals may have none. For more information on each characteristic, see the physical health section.
Short Stature
Barb 4'6", Brooke 5'
The jaw may be smaller
The roof of the mouth may be narrow
The knees may turn inward
The 4th toe may be shorter (not common)
The chest may be broader
The forearms may angle away from the body
The bone under the 4th finger may be shorter
The spine of the neck may be shorter
The outer corner of the eyes may turn downward
The hairline may be closer to the neck
A small skinfold may appear where the eye meets the nose
Skin folds at the neck may be obvious as well as the ears may be more prominent
The feet, hands, or face may be swollen or puffy
Keloid scarring may occur
Finger and toenails may be small or different looking
Some degree of the following conditions may also be associated with TS:
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Recurring middle ear infections
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hearing loss
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distinctive heart, liver, and kidney abnormalities
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autoimmune disorders, such as underactive thyroid and celiac disease
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difficulty with nonverbal communication skills, spatial relationships, such as driving or riding a bike, and executive functions
A Typical Human Karyotype
Most Common Turner
Syndrome Karyotype (45X)
(One X chomosome
rather than two)
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If you are new to TSSUS, welcome! Please don't hesitate to contact us if you would like to discuss your personal needs with a staff member.
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To learn more about the health conditions and treatments related to TS please visit the Physical Health page.
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To learn more about the genetics of TS, we have a great video.
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We recommend the easy-to-read version of the Clinical Practice Guidelines for TS to get the big picture of the health needs related to TS.