Girls with Turner Syndrome usually have normal intelligence and their progress at school is generally If you need more advice about any aspect of Turner good. However a small proportion of girls with Turner Syndrome may have specific learning difficulties. Sometimes they have particular difficulties with South West Thames Regional Genetics Unit
mathematics and geometry, but their reading age may St. George’s Hospital Medical School
be advanced. Activities involving dexterity, e.g. fine Cranmer Terrace
finger movements and co-ordination, can occasionally SW17 0RE

020 8266 6427
In girls with Turner Syndrome the eggs in the ovaries degenerate and disappear in early childhood and the 020 8725 3444
ovaries stop functioning properly well before the age that puberty would normally begin. The ovaries normally produce the sex hormones oestrogen and progesterone and it is oestrogen that is needed to start puberty. When You may wish to contact the Child Growth Foundation the ovaries do not function, puberty will only occur if or the Turner Syndrome Support Society (UK), which are replacement oestrogen therapy is given. The great support groups specifically for girls with Turner majority of girls with Turner Syndrome do not start their periods or develop the adult female body shape without the help of some hormone treatment. Oestrogen is used The Child Growth Foundation
to start off breast development, and progesterone and oestrogen together help produce regular periods.
London W4 1PWTelephone: 020 8994 7625/ 020 8995 0257Website: The Turner Syndrome Support Society (UK)
Girls with Turner Syndrome are almost always infertile, because their ovaries are unable to produce eggs. A very small proportion of young women with Turner Syndrome may have a short time during their life when E-mail address: [email protected] Although girls with Turner Syndrome have non-functioning ovaries, they do have a normal womb and vagina, and will be able to have an entirely normal sex life. Some women with Turner Syndrome have had This information sheet was compiled from a number of successful pregnancies using donated eggs and in vitro sources including the booklet 'Turner Syndrome: A guide for Patients and Parents', produced by the Child Growth Foundation. Thanks also to the Clinical Genetics St. George’s Hospital
suspected shortly after birth because a baby has an Introduction
unusually wide neck ("neck webbing"), puffy hands and feet, or occasionally a problem with the heart. Often a Humans are usually born with 46 chromosomes, which girl with Turner Syndrome is not diagnosed until early are arranged in 23 pairs. One of these pairs determines childhood, because she is not growing as well as whether a baby is male or female, and these are known expected. Some girls are diagnosed as teenagers when as the sex chromosomes. Boys are born with the sex they are taken to the doctor because their periods or chromosomes XY, and girls are born with two X puberty seem to be late in starting.
chromosomes (XX).
Occasionally, however, a girl is born with only one X
chromosome and this is known as Turner Syndrome. The
second X chromosome is usually missing in Turner
In Turner Syndrome there will usually be only one X Syndrome. Occasionally it may be present, but abnormal in some way. About 1 in 2,500 girls has Turner Syndrome. Features of Turner Syndrome
chromosomes in total. The picture above is an enlarged In Britain, it is estimated that there are about 10,000 girls photograph of chromosomes from a person with Turner and women who have Turner Syndrome. Even though Turner Syndrome can have effects on many parts of the these girls only have one normal X chromosome, they body. Some of the most common features are listed are 100 percent female. They may, however, have fertility When one X is missing in all the cells of the body this is below. Most girls with Turner Syndrome would have often described as "classical Turner Syndrome". The missing X has been lost some time during cell division in Turner Syndrome is named after Dr. Henry Turner, who the course of egg or sperm production. Some females - Short stature (not so tall as other girls).
have abnormalities in one of their two X chromosomes. - Widening of the neck ("webbed neck").
- Ovaries that do not function and infertility.
- An underactive thyroid gland.
Sometimes one X chromosome is missing from, or is - A broad chest with widely spaced nipples.
abnormal in, some, but not all, of the cells of the body. What causes Turner Syndrome?
- A heart murmur, sometimes associated with narrowing This is referred to as "mosaic Turner Syndrome". In this of the aorta (the main blood vessel that comes out of the case, some of the cells have a normal chromosome The cause of the missing or abnormal X chromosome in pattern but others do not. Girls with Turner Syndrome in Turner Syndrome is not known. No risk factors, such as a mosaic form often have less obvious physical raised maternal age, diet during pregnancy etc have characteristics and may not have fertility problems.
been identified as being associated with an increased Aspects of Turner Syndrome
risk of having a baby with Turner Syndrome.
GrowthGirls with Turner Syndrome tend to be short. Their When is the diagnosis made?
growth rate may be normal for the first 2 or 3 years before slowing down. There are several ways to try and Diagnosis and chromosomal findings
Turner Syndrome is sometimes suspected when an improve the growth of girls with Turner Syndrome, and a ultrasound scan is performed during pregnancy. When a girl will usually need to be referred to a child growth Girls with Turner Syndrome often have a typical scan suggests Turner Syndrome, it can be confirmed by specialist so that her individual needs can be assessed appearance, and this is how the diagnosis is often first checking the baby’s chromosome pattern. This can be and the treatment options discussed. Although girls with suspected. The diagnosis can be confirmed by done during pregnancy by either an amniocentesis test Turner Syndrome do not have growth hormone or a chorionic villus sampling (CVS) test.
deficiency, growth hormone is often used to increase Usually, however, the diagnosis is made later. It may be


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