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Chapter 10 - Turner Syndrome

Published online by Cambridge University Press:  28 January 2023

By
Helen E. Turner  and
Matilde Calanchini
Edited by
Naomi S. Crouch  and
Cara E. Williams
Naomi S. Crouch
Affiliation:
St Michael's Hospital, Bristol
Cara E. Williams
Affiliation:
Liverpool Women's Hospital
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Summary

TS is one of the most common sex chromosomal abnormalities, caused by complete or partial absence of one X chromosome in a phenotypic female. The most common features of TS are short stature and premature ovarian insufficiency, but the phenotypic spectrum is widely variable in both presentation and severity.

Type
Chapter
Information
Paediatric and Adolescent Gynaecology for the MRCOG , pp. 77 - 86
Publisher: Cambridge University Press
Print publication year: 2023

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References

Gravholt, CH, Andersen, NH, Conway, GS, Dekkers, OM, Geffner, ME, Klein, KO, 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;177:1–70.Google Scholar
Hankus, M, Soltysik, K, Szeliga, K, Antosz, A, Drosdzol-Cop, A, Wilk, K, et al. Prediction of spontaneous puberty in Turner syndrome based on mid-childhood gonadotropin concentrations, karyotype, and ovary visualization: a longitudinal study. Horm Res Paediatr. 2018;89:90–7.Google Scholar
Sutton, EJ, McInerney-Leo, A, Bondy, CA, Gollust, SE, King, D, Biesecker, B. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005;139:57–66.Google Scholar
Mortensen, KH, Andersen, NH, Gravholt, CH. Cardiovascular phenotype in Turner syndrome – integrating cardiology, genetics, and endocrinology. Endocrine Rev. 2012;33:677–714.CrossRefGoogle ScholarPubMed
Turner Syndrome Society, www.tss.org.uk.Google Scholar
Bernard, V, Donadille, B, Zenaty, D, Courtillot, C, Salenave, S, Brac de la Perrière, A, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016;31:782–8.Google Scholar
Chevalier, N, Letur, H, Lelannou, D, Ohl, J, Cornet, D, Chalas-Boissonnas, C, et al. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab. 2011;96:260–7.Google Scholar
Oktay, K, Bedoschi, G. Fertility preservation in girls with Turner syndrome: limitations, current success and future prospects. Fertil Steril. 2019;111:1124–6.Google Scholar
Mamsen, LS, Charkiewicz, K, Anderson, RA, Telfer, EE, McLaughlin, M, Kelsey, TW, et al. Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation. Fertil Steril. 2019;111:1217–25.Google Scholar
Hagman, A, Loft, A, Wennerholm, UB, Pinborg, A, Bergh, C, Aittomäki, K, et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study. Hum Reprod. 2013;28:1598–609.CrossRefGoogle ScholarPubMed
Bondy, C. Pregnancy and cardiovascular risk for women with Turner syndrome. Womens Health. 2014;10:469–76.Google Scholar
Söderström-Anttila, V, Pinborg, A, Karnis, MF, Reindollar, RH, Paulson, RJ. Should women with Turner syndrome be allowed to carry their own pregnancies? Fertil Steril. 2019;112:220–5.Google Scholar

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