The majority of girls and women with Turner syndrome live long, healthy lives. However, some are susceptible to a number of chronic conditions and so diagnosis as early as possible is important.

Although Turner syndrome is diagnosed by chromosome analysis or karyotype, the condition presents with a number of physical features and clinical characteristics which may suggest the diagnosis.

Many girls are diagnosed in early childhood when growth starts to slow down. Some are diagnosed later when there is no puberty growth spurt or development of secondary sexual characteristics. However, by this stage, associated medical problems such as congenital lymphoedema and renal malformation may be established and there is also a risk of other problems developing such as sensorineural hearing loss, osteoporosis, obesity and diabetes.

Turner syndrome should therefore be diagnosed as early as possible after birth to ensure that the child has the best care
throughout childhood and beyond.

I hope that health professionals who may encounter children with Turner syndrome i.e. general practitioners, paediatricians and community child health workers will find this booklet a useful aid to the diagnosis of the condition.

Professor Martin Savage
Professor of Paediatric Endocrinology