Turner Syndrome Symptoms, Causes, Treatment and Diagnosis

Turner syndrome diagnosis can be done before the child is born. Amniocentesis and abnormal ultrasound can already predict that there is something wrong with the child.

Symptoms Of Turner Syndrome

Signs of turner syndrome also vary among patients. Here are some of the symptoms Turner syndrome patients may have:

  • Webbed neck. Patients usually have thicker necks than usual.
  • Low set of ears. This may also mean impaired hearing.
  • Swollen hands and feet at birth. This is caused by edema or extra fluid on the hands and feet.
  • Uncontrollable rotating of both elbow and knee joints. Abnormal bone development is the reason why both elbows and knees jolt uncontrollably.
  • Heart defects. This is the most serious medical concern among the symptoms. This is the common cause of deaths among females with Turner syndrome.
  • Short stature. The SHOX gene, responsible for the growth and bone development. SHOX gene is located in one of the X chromosomes, which may be missing or altered in females with Turn syndrome.
  • Poor breast development. This is due to hormonal imbalance, such as low estrogen level.
  • Infertility. Female with Turner syndrome do not have menstrual cycles because of gonadal dysfunction. For a proper gonadal function, the two X chromosomes must be normal.
  • Hypothyroidism. Hashimoto’s thyroiditis is the most common type of hypothyroidism that hits Turner syndrome patients.
  • Osteoporosis. This can be the result of low estrogen levels in females with Turner syndrome.

What Causes Turner Syndrome

There is still no proven cause of why there are abnormalities in the X chromosomes of female which results to Turner Syndrome. But here are some of the theories that may cause Turner Syndrome:

  • Maternal age may be a possible cause for chromosomal abnormalities; however, this still lack proofs and studies.
  • The abnormal X chromosome is of paternal origin. This means that the father contributes the abnormal X chromosome.

Treatment For Turner Syndrome

Turner syndrome is a genetic disorder that cannot be treated. But there are ways on how to minimize the symptoms. Here are some cures that can minimize the symptoms of Turner syndrome:

  • Females with Turner syndrome can get pregnant through oocyte donation. However, problems may still arise as the mother may still suffer from cardiovascular disorders.
  • Hypothyroidism can be treated with thyroid hormone supplements.
  • Estrogen replacement therapy can be given to young females before puberty. This is for the development of secondary sex characteristics, such as breast development.
  • Growth hormone can be administered to increase height.

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