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Review
. 2018 Jan;9(1):33-40.
doi: 10.1177/2042018817746291. Epub 2017 Dec 18.

Current best practice in the management of Turner syndrome

Roopa Kanakatti Shankar  1 , Philippe F Backeljauw  2
Affiliations
Review

Current best practice in the management of Turner syndrome

Roopa Kanakatti Shankar et al. Ther Adv Endocrinol Metab. 2018 Jan.

Abstract

Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population.

Keywords: Turner syndrome; diagnosis; guidelines; screening.

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Conflict of interest statement

Conflict of interest statement: The authors declare that there is no conflict of interest.

References

    1. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991; 87: 81–83. - PubMed
    1. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 1938; 23: 566–574. - PubMed
    1. Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017; 177: G1–G70. - PubMed
    1. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome Study Group. J Clin Endocrinol Metab 2007; 92: 10–25. - PubMed
    1. Pinsker JE. Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab 2012; 97: E994–E1003. - PubMed

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