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Turner syndrome

  • Posted on- Jul 09, 2015
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Turner syndrome is a health complication that affects only girls and women when the X chromosome (a sex chromosome) is partially or completely missing. The syndrome can lead to developmental problems like short height, failure to start puberty, infertility, heart problems, learning issues and social behaviour problems.

Turner syndrome is usually diagnosed in prenatal stages, during infancy or in early childhood. In some cases, the diagnosis is delayed till teen age because of mild signs and symptoms of the syndrome.

Causes of Turner syndrome

Most people are born with two sex chromosomes. A boy gets the X chromosome from his mother and the Y chromosome from his father. Similarly, a girl gets one X chromosome from each parent. If a girl has Turner syndrome, one X chromosome will be partially or fully absent. Symptoms of Turner syndrome includes:
  • The reason behind the absence of an X chromosome may be because of an error in the father's sperm or in the mother's egg. This results in every cell having only one X chromosome.
  • In certain cases, an error occurs in cell division during initial stages of foetal development. This results in some cells having two copies of the X chromosome. Other cells contain only one copy of the X chromosome.


Symptoms

Symptoms of Turner syndrome vary indefinitely during different stages of a girl’s life:

Before birth


At birth or during infancy
  • Wide neck
  • Small lower jaw
  • Narrow and high roof of the mouth
  • Receding hairline at the back of the head
  • Low-set ears
  • Broad chest and widely spaced nipples
  • Short height, fingers and toes
  • Arms that turn outward at the elbows
  • Narrow, turned upward fingernails and toenails
  • Inflammation of the hands and feet
  • Delayed overall body development

In teens, young and old women
  • Less growth in childhood
  • Short height, about 20 centimeters, less than expected
  • Normal intelligence with learning disabilities, especially concepts
  • Difficulty in understanding other people's emotions or reactions
  • Failure to start sexual changes expected during puberty
  • Sexual growth that halts during teenage years
  • Early end to the menses not due to pregnancy
  • Inability to conceive a child without fertility treatment


Treatment

Treatment for Turner syndrome involves hormone therapies for all girls and women:

  • In most of the cases, girls are recommended growth hormone therapy. The objective is to increase height as much as possible at right times during your daughter's childhood and teen years. Growth hormone treatment is given in the injection form several times a week. In addition, your doctor may recommend an androgen called oxandrolone.
  • Most girls with Turner syndrome require estrogen and similar hormone therapy to start puberty and achieve adult sexual development. Normally, Estrogen replacement therapy carries on for life until a woman reaches the average age of menopause.

It’s difficult to distinguish the symptoms of Turner syndrome from other disorders. See your primary care physician if you believe your daughter shows signs of Turner syndrome.