Diagnosis and Management of Turner Syndrome in Children and Adults

Abstract

Turner syndrome affects approximately 1 in 2500 live female births and is characterised by an abnormal or missing X chromosome. It is associated with increased morbidity and mortality due to the associated phenotypic abnormalities. The commonest presentation is aged 10-16 with short stature and primary amenorrhoea, however the considerable phenotypic variation some of which is associated with a particular/mosaic karyotype may lead to delay/missed diagnosis. Girls and women with TS should be followed up for life with screening for complications, and management of short stature, primary (and more rarely secondary) ovarian failure, cardiovascular complications, and increased autoimmune and metabolic risk. Recent guidelines provide useful guidance for the successful lifelong management of girls and women. A multidisciplinary approach addressing (Fig. 40.6) all aspects of their care including expert cardiological monitoring and intervention when required, access to fertility and obstetric expertise when appropriate, expert genetic counselling if indicated, and discussion of psychosocial, education, employment issues is key to the successful outcome for all women with Turner syndrome.