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Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines

Lookup NU author(s): Sophie Howarth, Dr Richard Quinton

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Abstract

© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ. A woman in her 50s with Turner syndrome was referred to the endocrine clinic, having been unaware of her diagnosis until she received a shielding letter from the UK government during the COVID-19 pandemic. Despite a neonatal diagnosis of Turner syndrome on her general practitioner record and despite having undergone laparoscopic examination for absent puberty and primary amenorrhoea aged 18 years, she had not received any prior hormone treatment or cardiovascular screening. Though Turner syndrome is rare, recent data from the UK Biobank suggest that it may be underdiagnosed. Clinicians should be aware of the clinical features and associated complications of Turner syndrome to avoid delayed diagnosis and missed opportunities for treatment. In this report, we discuss the clinical features of this rare syndrome and current guidelines for screening and treatment. We stress the importance of peer-to-peer support and information sharing through patient-led groups, such as the Turner Syndrome Support Society.

Publication metadata

Author(s): Howarth S, Quinton R

Publication type: Article

Publication status: Published

Journal: BMJ Case Reports

Year: 2022

Volume: 15

Issue: 8

Online publication date: 17/08/2022

Acceptance date: 22/07/2022

ISSN (electronic): 1757-790X

Publisher: BMJ Publishing Group

URL: https://doi.org/10.1136/bcr-2022-250870

DOI: 10.1136/bcr-2022-250870

PubMed id: 35977751

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