Turner syndrome: Bonnevie-Ullrich; Gonadal Dysgenesis (XO); MonosomyX; Turner-Ullrich; XO syndrome

Although the features of the syndrome in girls were described earlier, the syndrome is named after Dr Henry Turner who reported a number of girls with the features of the syndrome in a paper of 1938. Turner syndrome is a chromosomal condition affecting 1 in 2,500 girls where the second X chromosome is absent or abnormal. It is one of the most common chromosomal disorders. 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.

Turner syndrome is generally characterised by short stature and non functioning ovaries, usually leading to the absence of pubertal development and infertility. Though growth hormone secretion is nearly always normal the treatment with growth hormone has demonstrated an increase in growth rate. At an appropriate age girls are given oestrogen for the development of secondary sexual characteristics and the introduction of regular uterine withdrawal bleeds, which is important to keep the uterus healthy.

Physical features associated with Turner syndrome may include Coarctation of the aorta, webbing of the neck, wide spaced nipples and puffy hands and feet. Sleeping and feeding difficulties may occur in early childhood and though intelligence spans the normal range there can be learning and behavioural difficulties, which benefit from appropriate support and the diligence of the girls themselves.

Inheritance patterns
This is a sporadic event.

Prenatal diagnosis
Chorionic villus sampling at nine to twelve weeks and amniocentesis at sixteen weeks.

Psychological and behavioural characteristics
Girls with Turner syndrome usually attain overall IQ scores in the normal range. However, they have consistently been found to have significantly better verbal than visuospatial abilities. For example, nonverbal reasoning and memory skills tend to be weaker than verbal reasoning and memory. Visuomotor co-ordination may also be an area of weakness. Correspondingly, reading may be relatively good but mathematics is often an area of academic weakness. Visuospatial deficits may also contribute to difficulties in processing some socially important information, such as recognising faces and facial expressions.

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. In a small but significant minority of girls, autistic features may be recognised. Interestingly, girls who inherited their single X chromosome from their mother tend to have more difficulties in this respect than those who inherited the chromosome from their father.

That said, many adult women attain high goals in their personal, academic, and occupational lives.

Medical written November 1995 by Dr Richard Stanhope. Last updated September 2005 by Dr Richard Stanhope, Consultant Paediatric Endocrinologist, Great Ormond Street Hospital, London, UK. Psychological and behavioural characteristics last updated February 2004 by Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK and Dr A Kuczynski, Child Clinical Psychologist, South London & Maudsley NHS Trust, London, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

TURNER SYNDROME SUPPORT SOCIETY

Turner Syndrome Support Society
13 Simpson Court
11 South Avenue
Clydebank Business Park
Clydebank G81 2NR
Tel: 0845 230 7520 Helpline
Tel: 0141 952 8006
Fax: 0141 952 8025
e-mail: Turner.syndrome@tss.org.uk
Web: http://www.tss.org.uk

The Society is a National Registered Charity 1080507, established in 1999. It offers support and information to girls and women who have Turner syndrome, their families and friends. The Society works with medical specialists to raise awareness about the condition and to encourage research in to all aspects of Turner syndrome. It publishes a quarterly newsletter and hosts Society Open Days and an Annual Conference. It encourages enquiries from Health, Educational and Social Services professionals. It can provide further information and details of membership on request. The Society has over 700 members.

Group details last updated October 2006.

Support and information on Turner syndrome can also be obtained from the Child Growth Foundation (for contact details see entry, Restricted Growth).