Turner Syndrome Information
Did you know that Turner Syndrome is the 2nd most common chromosomal disorder affecting women?
Turner Syndrome (TS) is a chromosomal condition that affects females. It is caused by a partially or completely missing X chromosome and it can cause some abnormalities in the development of females. Turner Syndrome is a treatable complex condition, but will require a lifetime of specialized care, including early interventions and hormone therapy.
Prevalence:
1 – 3% of fetuses affected by TS will survive birth.
Turner Syndrome affects approximately 1 in 2,000 to 2,500 live newborn females.
Symptoms and conditions affecting Turner Syndrome girls and women*:
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SYMPTOMS
- Growth / short stature (most common) – affects 95% of TS females
- Hormone dysfunction (delayed puberty & reproductive sterility)
- Lymphedema (swelling of hands and feet)
- Frequent ear infections hearing loss – affects 60% of TS females
- Social anxiety
- Attention Deficit Disorders
- Learning challenges
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ISSUES
- Failure to thrive first year of life – affects 50% of TS females
- Cardiovascular – affects 42%of TS females
- Renal
- Liver
- Orthopedic
- Autoimmune
- Dermatologic
- Hearing & Vision
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Turner Syndrome should be suspected when these indications are present:
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As the only clinical feature:
- Fetal cystic hygroma, or hydrops, especially when severe Idiopathic short stature
- Obstructive left-sided congenital heart defecta
- Unexplained delayed puberty/menarche
- Couple with infertility
- Characteristic facial features in a female
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At least two of the following:
- Renal anomaly (horseshoe, absence, or hypoplasia)
- Madelung deformity
- Neuropsychologic problems, and/or psychiatric issues
- Multiple typical or melanocytic nevi
- Dysplastic or hyperconvex nails
- Other congenital heart defectsc
Hearing impairment <40 years of age together with short stature
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For more information about Turner Syndrome, please visit the Turner Syndrome Foundation website at https://turnersyndromefoundation.org/