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Diagnosis and Management of Turner Syndrome in Children and Adults

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Advanced Practice in Endocrinology Nursing

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.

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Abbreviations

AMH:

Anti-Mullerian Hormone

APS:

Autoimmune polyglandular syndrome

ASI:

Aortic size index

BAV:

Bicuspid aortic valve

CMR:

Cardiac MRI

CoA:

Coarctation of aorta

ECG:

Electrocardiogram

GH:

Growth hormone

HRT:

Hormone replacement therapy

HTN:

Hypertension

IVF:

In vitro fertilisation

OR:

Odds ratio

R:

Recommendation of International Guidelines

SMR:

Standardised mortality ratio

TS:

Turner Syndrome

TTE:

Transthoracic echo

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Key Reading

  1. Bondy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92:10–25.

    CAS  PubMed  Google Scholar 

  2. Conway GS, Band M, Doyle J, Davies MC. How do you monitor the patient with Turner’s syndrome in adulthood? Clin Endocrinol (Oxf). 2010;73:696–9.

    Google Scholar 

  3. Culen C, Ertl DA, Schubert K, Bartha-Doering L, Haeusler G. Care of girls and women with Turner syndrome: beyond growth and hormones. Endocr Connect. 2017;6:R39–51.

    PubMed  PubMed Central  Google Scholar 

  4. Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner’s syndrome in adulthood. Endocr Rev. 2002;23:120–40.

    CAS  PubMed  Google Scholar 

  5. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Soderstrom-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF, International Turner Syndrome Consensus Group. 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.

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  6. Bondy C. Pregnancy and cardiovascular risk for women with Turner syndrome. Womens Health (Lond). 2014;10:469–76.

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  7. Hewitt JK, Jayasinghe Y, Amor DJ, Gillam LH, Warne GL, Grover S, Zacharin MR. Fertility in Turner syndrome. Clin Endocrinol (Oxf). 2013;79:606–14.

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Acknowledgments

With special thanks to Arlene Smyth, Executive Officer, Turner Syndrome Support Society [UK] www.tss.org.uk for her contribution to this chapter with a case study and information on the Patient Advocacy Group.

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  1. The Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK

    Helen E. Turner

  2. Endocrine Program, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada

    Irena R. Hozjan

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  1. Helen E. Turner
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  2. Irena R. Hozjan
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Correspondence to Helen E. Turner .

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Editors and Affiliations

  1. School of Health Sciences, City, University of London, London, UK

    Sofia Llahana

  2. Department of Oncology, Skåne University Hospital, Lund, Sweden

    Cecilia Follin

  3. Northwest Pituitary Center Oregon Health and Sciences University, Portland, OR, USA

    Christine Yedinak

  4. Churchill Hospital, University of Oxford, Oxford, UK

    Ashley Grossman

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Turner, H.E., Hozjan, I.R. (2019). Diagnosis and Management of Turner Syndrome in Children and Adults. In: Llahana, S., Follin, C., Yedinak, C., Grossman, A. (eds) Advanced Practice in Endocrinology Nursing. Springer, Cham. https://doi.org/10.1007/978-3-319-99817-6_40

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  • DOI: https://doi.org/10.1007/978-3-319-99817-6_40

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  • Print ISBN: 978-3-319-99815-2

  • Online ISBN: 978-3-319-99817-6

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