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Turner Syndrome

Turners syndrome (TS) causes physical, growth and sexual development problems in women. Women with this genetic disorder have normal intelligence but they encounter some difficulties in certain aspects, such as memory, fine finger movements and visual processing. The syndrome usually goes unnoticed at birth but slowly becomes obvious as the child grows. In addition, the syndrome can also affect other parts of the body and cause problems like the heart defects, kidney problems and thyroid disorders.

Problems caused by Turners syndrome can be treated or managed as long as the condition is detected early. For instance, growth hormones can be utilized to help cope with growth deficits, while hormone replacement therapy could induce normal sexual development. These medical conditions should be treated in a timely manner to prevent life-threatening conditions from arising. Pregnancy is almost impossible with Turners syndrome; still, it can be achieved through IVF.

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History of Turners Syndrome

The condition was named after an endocrinologist from Illinois named, Dr. Henry H. Turner. He had 7 patients between 15 and 23 years old who all lacked sexual development and have short stature. But at the time, the reason behind the condition was not yet fully understood.

European doctors had also described the syndrome and referred to it as Ullrich-Turner syndrome or Bonnevie-Ullrich-Turner syndrome. In 1959, Dr. Charles Ford had a 14-year old patient that displayed the hallmark signs of the disease. It was the first reported case of TS published in medical journals in London.

Recent medical studies have identified the cause of the problem as well as the gene involved that leads to skeletal abnormalities and short stature. Experts are continuously working on identifying the genes that cause learning difficulties and visual-spatial disabilities.

What is Turner Syndrome ?

The syndrome exclusively affects the female population as it develops when one copy of the female chromosome X is partially or completely absent or defective.  The effects of this chromosomal abnormality significantly vary among women depending on the extent of body cells affected by the abnormal X chromosome.

Turners syndrome could be brought about by any of the following conditions:

  • One copy of X chromosome is totally absent. This condition comprises most cases of TS and is referred to as monosomy. An error within the sperm or egg could be the reason why only one copy of the X chromosome is present.
  • There are actually two X chromosomes but one of them is incomplete or defective. In other cases, they are both present in some cells but incomplete in other cells. This condition is known as mosaicism and occurs when there is an error during cell division.
  • The Y chromosome material exists together with the X chromosomes in the cells. This condition, though rare, increases the likelihood for the cancer called gonadobastoma to develop.

Statistics have shown that 1 girl is born with Turners syndrome out of 2,000 female births. The fact that those who have the syndrome exhibit the symptoms differently leads to many unreported cases of TS. The condition develops randomly, particularly during the early stages of fetal development. The deletion of or defects in the X chromosome material is rarely inherited or passed on to the next generation.

Effects of Turners Syndrome

The syndrome is already present at birth but is only typically detected within the first 12 months of the child’s life. Some of the symptoms of the syndrome are:

  • Webbed neck
  • Lazy eye and drooping eyelids
  • Low hairline, low-set ears and jaw
  • Narrow palate
  • Broad chest
  • Swollen feet and hands
  • Flat feet

Those suffering from this genetic abnormality may or may not have all these symptoms. However, they all suffer from the following:

  • Short stature
  • Non-functional ovaries
  • Undeveloped breasts
  • Delayed or no menstruation
  • Difficulties in visual processing
  • Poor aptitude in math

Complications of Turners Syndrome

The chromosomal abnormality not only affects the growth, sexual development and cognition of the individual but other areas of the body as well. The chances of developing certain medical conditions are higher than those who are not suffering from the syndrome. These include:

  • Heart defects or diseases
  • Hypertension
  • Kidney problems
  • Ear infections
  • Hypothyroidism
  • Celiac disease

These problems can, however, be managed properly through timely and appropriate medical care. Other issues caused by the chromosomal abnormality can be treated as well so as to help sufferers lead normal lives.

Living with Turner Syndrome and life expectancy

Turner syndrome can have a huge impact on the life of the patient. A person affected by the syndrome may find it difficult to fit in with others. But with proper treatment, living a normal and even productive life can be achieved. When the syndrome is detected early, growth hormones can be given to help the patient reach his or her ideal height. Meanwhile, hormone replacement therapy will help initiate sexual development so the patient will develop breasts and menstruate. Secondary medical complications are treated as well, such as learning and cognitive deficits. Conceiving is risky and difficult for women with Turners syndrome, but this is still possible through in-vitro fertilization.  Women with Turner Syndrome usually live up to 50 years of age.  The minimum age of life expectancy is about 13 years.  The causes of mortality are often heart or kidney problems.

Turner Syndrome – Pictures

 

 

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