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Case Reports: Reminder of important clinical lesson
Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines
  1. Sophie Howarth1,2 and
  2. Richard Quinton1,2
  1. 1Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK
  2. 2Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
  1. Correspondence to Dr Sophie Howarth; sophie.howarth{at}ncl.ac.uk

Abstract

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.

  • Cardiovascular medicine
  • Endocrinology
  • Genetic screening / counselling
  • Reproductive medicine
  • Congenital disorders

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

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    Footnotes

    • Contributors RQ was involved in conceptualisation and article design. SH wrote the manuscript and designed the figure. Both authors contributed to manuscript review and editing.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests In the past 3 years, RQ has accepted Speaker’s honoraria from Bayer, Besins and Thornton & Ross.

    • Provenance and peer review Not commissioned; externally peer reviewed.