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.
What is Turner Syndrome?
Turner Syndrome (TS) is a genetic condition in females in which one of the two X chromosomes (sex chromosomes) is completely or partially missing. This chromosomal difference can lead to a range of physical, developmental, and medical challenges, including short stature, delayed puberty, heart conditions, and infertility.
TS affects approximately 1 in every 2,500 females and can be diagnosed at birth, during childhood, or later in life. Thanks to increased awareness and improved testing, many cases are now identified during pregnancy or infancy.
Despite these challenges, you or your child can lead healthy, fulfilling lives with proper medical care and support. Each of you is unique, and your health needs will vary widely—making lifelong health management essential.
Key Facts About Turner Syndrome
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Discovered in 1938, TS is defined as a chromosomal condition caused by the complete or partial absence of the second sex chromosome.
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TS occurs in 1–2% of conceptions, but only about 1% survive pregnancy, making everyone with TS a true miracle.
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There are no known factors—such as parental age, ethnicity, actions or activities during pregnancy—that influence the likelihood of TS.
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The Turner Syndrome Clinical Practice Guidelines define TS as a condition that occurs only in females. Yet, biological males are infrequently diagnosed in the United States. Guidelines recommend using karyotype-based diagnoses rather than a TS diagnosis in these cases. TSSUS considers anyone with a TS diagnosis and their family a part of the TS community.
Signs and Diagnosis
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Infancy: Often diagnosed during pregnancy or shortly after birth.
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Childhood: Slow growth and chronic ear infections may prompt testing.
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Adolescence: Lack of expected puberty changes, such as menstruation, can lead to a diagnosis.
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Adulthood: TS can be diagnosed at any age—even after 50—although additional genetic testing is required.
Living with Turner Syndrome
For those with TS, their families, friends, and expectant parents, TS introduces unique challenges, rewards, and mysteries. Most people with TS believe their lives would be different without TS—but not necessarily better.
With proper care, individuals with TS can expect to thrive. Health maintenance throughout life is essential, and support from a knowledgeable community makes a significant difference.
How TSSUS Helps
The Turner Syndrome Society of the United States (TSSUS) is here to support you on this journey! With a community of over 14,000 members, families, and professionals, we provide resources, education, and connection to help you navigate your needs.
Explore our TS Guide for Families (pages 3–6) for detailed information, and join us in building a future of hope and health for everyone affected by Turner syndrome.
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 patient and family version of the Clinical Practice Guidelines for TS to provide a broad overview of the health needs related to TS.