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Turner Syndrome

 

What is Turner Syndrome?
Turner syndrome (TS) is a chromosomal condition affecting only females that is caused by complete or partial absence of the second sex chromosome. TS causes common physical characteristics, the most common being short stature and lack of sexual development at puberty. Females with TS have a heightened incidence of osteoporosis, type II diabetes, and hypothyroidism.

Who Gets Turner Syndrome?
Turner syndrome only occurs in females and is found in about 1 in 2000 live births, and potentially as many as 10% of all miscarriages.

Signs and Symptoms
The most common symptom of TS is short stature, without growth hormone therapy most girls will reach a final height of 8 inches shorter than they otherwise would have been. With growth hormone therapy the average final height is 4'8”. Other symptoms include:

  • Fetal abnormalities (fluid around the neck)
  • Webbed neck or lymphedema (swelling of the hands and feet)
  • Specific heart problems in infants
  • Slow growth, delayed puberty or amenorrhea
  • Infertility or menstrual irregularities
  • Premature ovarian failure (occurs in 90% of TS patients)
  • Narrow, high arched palate, low set ears, and low hairline
  • Broad chest, arms that turn out slightly at the elbows, scoliosis
  • Small, narrow finger and toe nails that turn up at the end
  • Kidney abnormalities, hypothyroidism, and frequent ear infections

Diagnosis and Treatment
Diagnosis is done by a test called a karyotype, this is usually performed on cells in the amniotic fluid before birth or can be done on cells found in the blood after birth. Treatment depends on the individual's symptoms and health complications due to TS. Often growth hormone therapy is administered to increase growth and final height in patients. Estrogen therapy is also needed in many patients due to ovarian failure. Estrogen therapy is given in order to initiate puberty and breast development, maintain healthy bone mass, and possibly normalize sexual function.

Relation of Celiac Disease and Turner Syndrome
Studies have found that girls with Turner syndrome are much more likely that then general population to test positively for celiac disease, estimates range from a 2% occurrence up to more than 8% of TS patients having celiac disease. Females with Turner Syndrome should be regularly tested for celiac disease in addition to other yearly exams.

References and Resources

Do you or a family member suffer from this disease? You may have celiac disease, find ouy now, take our celiac disease symptoms checklist.

 

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