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Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly.

Other physical features typical of Turner syndrome are

  • Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck
  • Low hairline in the back
  • Low-set ears
  • Swollen hands and feet

Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.

Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.

NIH: National Institute of Child Health and Human Development

Symptoms of Turner Syndrome

The following features are indicative of Turner Syndrome:
  • wide or weblike neck
  • receding or small lower jaw
  • high, narrow roof of the mouth
  • low-set ears
  • low hairline at the back of the head
  • broad chest with widely spaced nipples
  • short fingers and toes
  • arms that turn outward at the elbows
  • narrow fingernails and toenails
  • hands and feet swelling
  • delayed growth
  • slightly smaller than average height at birth
  • short stature
  • learning disabilities
  • early end to menstrual cycles

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Common Causes of Turner Syndrome

The following are the most common causes of Turner Syndrome:
  • monosomy
  • X chromosome abnormalities

Risk Factors for Turner Syndrome

The following factors may increase the likelihood of Turner Syndrome:
  • loss or alteration of the X chromosome

Prevention of Turner Syndrome

No, it is not possible to prevent Turner Syndrome.
  • genetic factors

Occurrence of Turner Syndrome

Number of Cases

The following are the number of Turner Syndrome cases seen each year worldwide:
  • Widely occurring between 500K - 1 Million cases

Common Age Group

Turner Syndrome most commonly occurs in the following age group:
  • At birth

Common Gender

Turner Syndrome most commonly occurs in the following gender:
  • Female

Lab Tests and Procedures for Diagnosis of Turner Syndrome

The following lab tests and procedures are used to detect Turner Syndrome:
  • Blood tests: To analyze daughter's chromosomes
  • Prenatal diagnosis: To indicate the risk of turner syndrome
  • Chorionic villus sampling: To test for Turner syndrome
  • Amniocentesis: To test for Turner syndrome

Doctor for Diagnosis of Turner Syndrome

Patients should visit the following specialists if they have symptoms of Turner Syndrome:
  • Obstetrician
  • Pediatrician

Complications of Turner Syndrome if untreated

Yes, Turner Syndrome causes complications if it is not treated. Below is the list of complications and problems that may arise if Turner Syndrome is left untreated:
  • heart problems
  • increased risk of diabetes and high blood pressure
  • hearing loss
  • kidney problems
  • hypothyroidism
  • celiac disease
  • dental problems
  • strabismus
  • hyperopia
  • scoliosis
  • kyphosis
  • osteoporosis
  • attention-deficit/hyperactivity disorder
  • infertility

Procedures for Treatment of Turner Syndrome

The following procedures are used to treat Turner Syndrome:
  • Growth hormone therapy: To increase height as much as possible at appropriate times during childhood and teen years
  • Estrogen therapy: To begin puberty and achieve adult sexual development

Patient Support for Treatment of Turner Syndrome

The following actions may help Turner Syndrome patients:
  • Education: Helps developing coping strategies
  • Peer group support: Helps reinforce self-esteem and provides a social network of people who understand patient's experience with Turner syndrome

Time for Treatment of Turner Syndrome

While time-period of treatment for each patient may vary, below is the typical time-period for Turner Syndrome to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Turner Syndrome.

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