A Chromosomal Disorder Affecting Females
Turner syndrome is acongenital disorderaffecting females resulting from a missing or partially missing Xchromosome.
Symptoms are sometimes mild and only recognized in the teen or adult years.
These include:
Cognitive and Learning Issues
Most people with Turner syndrome have normal intelligence.
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However, around 70% have some level of learning disability, most notably with visual-spatial and math skills.
Anxiety and depression are also common issues.
The ovaries will often fail to develop normally before and after birth.
Organ Defects
People with Turner syndrome also have an increased risk of abnormally formed kidneys.
This might cause problems, such as recurrent urinary tract infections.
More concerning are potential heart defects, including those affecting the largest artery of the cardiovascular system called theaorta.
These defects include:
Most people with Turner syndrome lead long lives.
However, these issues and other complications increase the risk of early death in people with Turner syndrome.
Hearing loss and vision problems are also common.
What Causes Turner Syndrome?
Although it is a genetic disorder, Turner syndrome is rarely inherited.
Rather, it is due to a random mutation that occurs during fetal development.
Normally, females inherit two X chromosomes, one from each parent.
With Turner syndrome, there may either be a missing or partially missing chromosome.
Genetic testingis necessary to confirm a diagnosis.
This involveskaryotypingwhich provides information about a persons chromosomes.
Lifelong care may be needed, especially if symptoms are severe.
GH is a naturally occurring substance produced by thepituitary glandthat triggers physical growth.
With Turners syndrome, synthetic GH can help people achieve a more typical height.
Treatment may start as early as 4 to 6 years of age.
Estrogen is also an important therapy for most people with Turner syndrome, usually starting around age 12.
Estrogen is usually paired with another important hormone called progesterone which can help normalize menstrual cycles.
Progesterone is usually added a year or two after estrogen therapy.
Estrogen and progesterone are continued until such time as menopause would normally occur.
Others may be able to give birth with the help of donor eggs or embryos.
Its a good idea to work with a fertility expert early oneven in childhoodto explore the potential options.
Medications are also sometimes used, including antidepressants for depression or stimulants for ADHD.
Summary
Turner syndrome is a genetic disorder in females because of a missing or abnormal X chromosome.
Learning disabilities are also common.
Turner syndrome can be diagnosed with genetic tests.
The treatment is multi-faceted but typically involves growth hormone and estrogen therapy.
Assisted fertility techniques can help some females with Turner syndrome conceive a baby.
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