Turner Syndrome

• Turner Syndrome can also be associated with certain health conditions, such as heart defects and kidney problems.
• Individuals with Turner Syndrome may experience difficulties with spatial awareness and motor skills.
• Turner Syndrome was first diagnosed by Henry Turner in 1938.
• Turner Syndrome affects girls.
• Turner Syndrome is a chromosome abnormality affecting only females caused by the complete or partial deletion of the X chromosome (XO).
• Turner Syndrome is a chromosome abnormality that results in girls having only one complete X chromosome; the other X chromosome is either missing or incomplete.
• Girls with Turner Syndrome are missing an X chromosome, so only have 45 in total rather than 46.
• Babies born with Turner Syndrome often have swollen hands and feet due to a build-up of prenatal fluid.
• Turner syndrome affects the typical developmental changes during puberty where the girl will not have the normal growth spurt and in most cases fail to produce sex hormones such as oestrogen and progesterone.
• Girls with Turner Syndrome will often have no menstruation cycle (amenorrhoea) and are infertile because of their underdeveloped ovaries.
• Some girls with Turner Syndrome develop minor learning difficulties and may have problems interacting with others.
• Girls with Turner Syndrome are typically smaller in stature and have a short, webbed neck.
• Generally adults with Turner Syndrome are physically immature and tend to retain the appearance of prepubescent girls.
• In contrast to Klinefelter’s Syndrome a feature of Turner Syndrome is higher than average reading ability.
• Price et al (1986) followed a group of 156 females with Turner Syndrome over a 17 year period. During that time 9% of them died, compared to only 3.6% in a matched sample without Turner Syndrome.
• Many of the deaths associated with Turner Syndrome are the result of cardiovascular diseases or problems with the circulatory system.
• Hormone replacement therapy has helped patients address some of the physical differences that they experience with Turner Syndrome or Klinefelter Syndrome.
• Growth hormone injections are beneficial for some individuals with Turner Syndrome and injections can begin in early childhood.
• Oestrogen replacement therapy is usually started at the time of normal puberty in girls with Turner Syndrome.
• Quigley et al (2014) found that girls with Turner Syndrome who were given oestrogen therapy in childhood were likely to have more positive female effects in puberty.
• Researchers found that providing treatment with oestrogen prior to puberty can help girls to develop at a normal rate. This could be an important psychosocial factor for girls with Turner Syndrome, making them feel more accepted in society.
• One strength of research into atypical sex chromosome syndromes is the contribution it makes to the nature versus nurture debate.
• Another strength of research is its application to managing the syndromes. Continued research into a typical sex chromosome patterns is likely to lead to earlier and more reliable diagnoses, giving patients a more positive outlook.
• Turner Syndrome can be diagnosed prenatally by looking at the features of the developing foetus. This could be considered unethical and socially sensitive, as labelling a foetus as abnormal could lead the parents to seek a termination.
• Patients with Turner Syndrome often suffer early ovarian failure and become infertile. One treatment option is to freeze eggs from girls before puberty to enable them to conceive at a later date. This also has ethical implications.