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Rare Disease Forum by Genetidoc Genetic Clinic Forums Genetic Rare Diseases Turner Syndrome What symptoms and signs do Turner syndrome cause?

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    • #605
      Anonymous
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      What symptoms and signs do Turner syndrome cause?

    • #610

      The symptoms can vary quite a bit from one person to another, but the most common ones are:

      *Short height: Growth is usually normal as a baby, but height falls behind other children starting in early childhood, and adult height is shorter than expected for the family
      *Delayed or absent puberty: Because the ovaries do not develop or function normally, breast development, menstrual periods, and other puberty changes may not happen on their own without medical treatment
      *Difficulty getting pregnant naturally: Most women with Turner syndrome have reduced fertility because the ovaries stop working earlier than usual, though this varies from person to person
      *Physical features: These can include a slightly webbed or broad neck, low-set ears, a wide chest, swelling of the hands and feet noticed at birth, and a low hairline at the back of the neck
      *Cardiac concerns: Some babies and children are born with heart conditions or its major blood vessel, the aorta, which need monitoring throughout life
      *Kidney differences: The kidneys may be shaped or positioned slightly differently than usual, though this often causes no health problems
      *Hearing difficulties: Ear infections are more frequent in childhood, and hearing loss can develop over time
      *Learning differences: Most girls and women with Turner syndrome have normal intelligence and do well with language and reading, but many find spatial thinking and mathematics more challenging
      *Higher risk of having certain other conditions: These include an underactive thyroid gland, celiac disease (a reaction to gluten in food), high blood pressure, and bone thinning if not properly treated

      Not every person with Turner syndrome has all of these features, some have only a few mild signs, while others have more. Each person with Turner syndrome presents differently.

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