Turner syndrome

Also known as: Bonnevie-Ullrich; Gonadal Dysgenesis (XO); Monosomy X; Turner-Ullrich; XO syndrome


Dr Henry Turner reported a number of girls with the features of Turner syndrome in a paper in 1938. It is a chromosomal condition affecting 1 in 2,000 girls where the second X chromosome is absent or a part of it is missing. It is one of the most common chromosomal disorders.


Medical written November 1995 by Dr R Stanhope. Last updated March 2012 by Dr R Stanhope, Consultant Paediatric Endocrinologist, The Portland Hospital, London, UK.

What are the symptoms?

Turner syndrome is generally characterised by short stature and non-functioning ovaries, usually leading to the absence of pubertal development and infertility. Growth hormone secretion is nearly always normal. The ovaries normally produce the sex hormones oestrogen and progesterone during puberty however, most girls who have Turner syndrome will not produce these sex hormones, which means that they:

  • may not start their periods naturally
  • may not fully develop breasts
  • may be infertile (unable to conceive a baby).

Other physical features associated with Turner syndrome may include coarctation of the aorta (narrowing of part of the aorta – the major artery leading out of the heart), webbing of the neck (skin fold that runs along the sides of the neck down to the shoulders), wide spaced nipples and puffy hands and feet. This is due to lymphoedema – a condition where when excess fluid is unable to drain from the organs and body and leaks into the surrounding tissues. Sleeping and feeding difficulties may occur in early childhood and though intelligence spans the normal range there can be learning and behavioural difficulties. Verbal abilities are often found to be significantly better than visuo-spatial abilities (abilities to judge spaces and shapes).

Many affected girls experience difficulties in their peer relationships. They may seem immature, have poor social skills and be unassertive, shy and socially anxious. They may also have difficulties related to poor concentration, distractibility and overactivity. There is a risk of low self-esteem, and social withdrawal and depression in adulthood. That said, many adult women attain high goals in their personal, academic and occupational lives.

How is it diagnosed?

The diagnosis is confirmed by examination of chromosomes from the blood cells (karyotype). Sometimes the second X chromosome is missing from, or abnormal in, only some cells in the body, but not all. This is referred to as Turner mosaicism.

How is it treated?

Despite normal growth hormone secretion, treatment with growth hormone has demonstrated an increase in final stature. At an appropriate age, girls are given oestrogen and progesterone replacement therapy in order to develop secondary sexual characteristics, such as breasts, pubic hair and the introduction of regular periods, which is important to keep the uterus (womb) healthy.

If learning difficulties are experienced, then appropriate support, especially in an education setting should be given. Psychological support may be needed if young women experience problems with low self-esteem, self-image and depression.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
This is a sporadic event and is not linked to the age of the mother. It is very rare to have a second child with Turner syndrome.

Prenatal diagnosis
Turner syndrome is sometimes suspected in pregnancy during a routine ultrasound. In these cases, it is usually lymphoedema that is noted. Chorionic villus sampling at nine to 12 weeks and amniocentesis at 16 weeks.

Is there support?

Turner Syndrome Support Society

Helpline: 0300 111 7520
Email: turner.syndrome@tss.org.uk
Website: tss.org.uk

The Society is a Registered Charity in England and Wales No. 1080507, and in Scotland No. SCO 37932. It offers support, advice and information to girls and women with Turner Syndrome and their families. The Society holds an annual conference and open days around the UK.  Members have access to a membership network for social contact with others throughout the UK.

Group details last updated January 2016.

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