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Clinical practice in Turner syndrome

Nature Clinical Practice Endocrinology & Metabolism volume 1, pages 41–52 (2005)Cite this article

Abstract

Turner syndrome (TS) is a common genetic disorder, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Morbidity and mortality are increased in TS but average intellectual performance is within the normal range. A number of recent studies have allowed new insights to be gained with respect to epidemiology, genetics, cardiology, endocrinology and metabolism. Elucidation of the effects of short stature homeobox protein deficiency has explained some of the phenotypic characteristics in TS, principally short stature. Treatment with growth hormone during childhood and adolescence allows a considerable gain in adult height, although the consequences of this treatment in the very long term are not clear. Puberty must be induced in most cases, and female sex hormone replacement therapy (HRT) is given during adult years. The optimal dose of HRT has not been established and, likewise, the benefits and drawbacks of HRT have not been thoroughly evaluated. The risks of type 2 diabetes, type 1 diabetes, hypothyroidism, osteoporosis, congenital heart disease, hypertension, ischemic heart disease, aortic dilatation and dissection, inflammatory bowel disease and celiac disease are clearly elevated, and proper care during adulthood is important. Currently no firm guidelines for diagnosis exist. In conclusion, TS is a condition associated with a number of diseases and conditions that are reviewed in the present paper. Individuals with TS need life-long medical attention.

Key Points

  • Turner syndrome is often diagnosed late with a median delay of 15 years

  • Short stature can be treated with growth hormone and a considerable increase in final height can be achieved

  • Ovarian insufficiency from adolescence is present in most patients and should be treated with hormone replacement therapy

  • Early detection of a number of diseases is possible, but requires continued surveillance

  • Heart conditions are often seen and should be screened for

  • A specialized, multidisciplinary team should take care of adolescents and adults with Turner syndrome in order to improve early detection and treatment of associated disorders

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Figure 1: Prevalence of Turner syndrome by year of birth (1970–1993) in Denmark
Figure 2: Delay in Turner syndrome diagnosis from birth
Figure 3: Illustration showing the typical congenital cardiovascular malformations seen in Turner syndrome—coarctation of the aorta, and bicuspid aortic valves, as well as the occurrence of aortic dilatation and dissection
Figure 4: Site-specific risk of fractures expressed as relative risk (RR)5

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Acknowledgements

CHG was supported by grants from the University of Aarhus, the Danish Diabetes Association, and the Danish Health Research Council.

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  1. senior researcher at the Medical Department M at Aarhus Sygehus, Aarhus University Hospital, Denmark

    Claus H Gravholt

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Correspondence to Claus H Gravholt.

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Gravholt, C. Clinical practice in Turner syndrome. Nat Rev Endocrinol 1, 41–52 (2005). https://doi.org/10.1038/ncpendmet0024

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