What is Turner Syndrome?

Turner syndrome is a chromosomal disorder that affects women who are missing completely or have abnormalities to one of their two X chromosomes. Henry Turner first described the syndrome in 1938 and its name comes from this.

Turner syndrome affects approximately 1 in every 2000 girls born to some extent although the severity of the syndrome can vary considerably. This is usually related to the degree of abnormality of the X chromosome. Monosomy X is the most common type and refers to when the X chromosome is completely missing; whereas mosaicism some cells have two and some have one copy of the X chromosome.


Turner syndrome is caused by a defect in the X chromosome given to the female by her father or mother. This appears to happen spontaneously, and there does not seem to be a hereditary link that will predispose parents to giving birth to a daughter with Turner Syndrome. Likewise, it is unlikely that a family with one child with the syndrome with have another child with the syndrome.


The characteristic symptoms of Turner syndrome are:

  • Short stature
  • Lymphedema of hands and feet
  • Broad chest
  • Low hairline
  • Low-set ears
  • Webbed neck
  • Increased weight
  • Small finger nails
  • Poor breast development
  • Visual impairment
  • Ear infections and hearing loss

Most women are also infertile, as there is some gonadal dysfunction present, and may not menstruate regularly. However, some women have been able to become pregnant spontaneous and others with the aid of fertility programs.

Additionally, cognitive learning deficit may be evident, particularly for memory and mathematical concepts.


Diagnosis may occur before the birth of the child, during infancy or as the girl develops into a young woman.

Before birth, ultrasound of an affected baby may exhibit signs of heart or kidney abnormalities, or fluid collection is parts of the body such as behind the neck.

During infancy, characteristic physical symptoms, such as webbed neck, low-set ears and low hairline are indicative of the syndrome.

Other girls only notice symptoms as they develop into a young woman when they may not grow as tall as expected and have abnormal menstrual cycles and physical development.

To confirm diagnosis upon presence of indicative symptoms a karyotype, or chromosome analysis, can be undertaken to determine the chromosomal composition.


Turner syndrome places women at higher risk of other health conditions, such as congenital heart disease, hypothyroidism, diabetes and some autoimmune disease.

Cardiovascular malformations related to Turner syndrome are the most common cause of death and adult women with the syndrome, hence posing as serious concern. The cause of these malfunctions is still unknown and further research is required.

Infertility is widespread among women with Turner syndrome and almost every woman with the syndrome is affected. However, in rare cases a woman has been able to become pregnant, either spontaneously or with the aid of fertility programs, and carry the pregnancy to full-term. Birth defects such as Turn syndrome and Down syndrome are more common in babies born to mothers with Turner syndrome.


There is no cure for Turner syndrome as it is caused by abnormalities in the chromosomes of the individual. However, certain management techniques can be adopted to help reduce the impact of symptoms.

Growth hormone can be administered to young women to help them reach their expected adult height and can be used from a young age throughout childhood.

Estrogen replacement therapy can help to initiate sexual characteristics at the time of puberty, as it is rare for this to occur spontaneously. This is particularly important for women who may wish to conceive a child at a later date with the help of IVF, as maintenance of the uterus and endometrial lining is essential for giving birth to a healthy child.


Further Reading

Last Updated: May 20, 2015



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