Turner syndrome in childhood and adolescence

Turner syndrome (TS) is the most common chromosomal disorder causing short stature in females. The short stature is caused at least in part by haploinsufficiency of the short stature homeobox (SHOX) gene. Complete spontaneous puberty may occur in approximately 16% of patients, with spontaneous pregnancy in up to 4%. The final height of untreated TS girls is 86–88% of the mean adult female height. Growth hormone (GH) given alone or with oxandrolone improves final height. The major factors determining the outcome of GH therapy are the dose of GH used and the number of years of GH therapy prior to oestrogenization. Pubertal induction in TS should be individualized bearing in mind growth optimization and psychological issues. Adolescents and adults with TS may face a range of medical, fertility and psychosocial issues. Psychological support for TS individuals and families is important throughout life and should ideally be provided by both health professionals and TS support groups.