Clinical Genetics

Turner Syndrome

Introduction to Turner Syndrome

This is a genetic condition that affects about 1/2000 girls. Normally, females have two X chromosomes but in this case, they only have one.

Written by Doctify Team 27/04/2020

What is Turner Syndrome?

This is a genetic condition which affects about 1/2000 girls. Normally, females have two X chromosomes but in this case they only have one. This genetic abnormality is due to random variation in conception and is not due to maternal age.

What are the causes for Turner Syndrome?

Females have two X chromosomes, but in the case of Turner Syndrome, these females only have one X chromosome.

What are the symptoms of Turner Syndrome?

Females are shorter than average and have undeveloped ovaries causing them to lack monthly periods and are infertile. These characteristics are not seen until puberty and so Turner Syndrome may not be diagnosed until 14 years. There are also some distinctive features present from birth. These include being born with swollen hands and feet, thick neck tissue, heart conditions and kidney abnormalities.
Some girl’s with Turner Syndrome may have behavioural, social or learning difficulties. Turner Syndrome is also associated with other conditions such as heart murmur, kidney and urinary tract problems, hypothyroidism, high blood pressure, osteoporosis, diabetes.

How is Turner Syndrome treated?

There is no treatment for Turner Syndrome but associated symptoms can be treated. Girls with Turner Syndrome have a high risk of complications and so there are clinics which regularly check the following: hearing, blood pressure, thyroid gland, glucose levels and bone mineral density.
Since many girls with Turner Syndrome are shorter than average, they can receive high-dose growth hormone therapy to reduce the short height in adulthood. These usually start at 5 or 6 years or when it becomes apparent the child is not growing properly. Hormone replacement therapy for oestrogen and progesterone might also be considered. Oestrogen can be used to prevent osteoporosis. This therapy will usually continue until 50 when the body would naturally stop producing the hormones anyway.

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