{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:17:32Z","timestamp":1793110652667,"version":"4.5.0"},"reference-count":21,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,7,22]]},"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2022-250870","type":"journal-article","created":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T11:00:10Z","timestamp":1660734010000},"page":"e250870","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7169-2356","authenticated-orcid":false,"given":"Sophie","family":"Howarth","sequence":"first","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK"},{"name":"Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Quinton","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK"},{"name":"Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,8,17]]},"reference":[{"key":"2025082703110807000_15.8.e250870.1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0430"},{"key":"2025082703110807000_15.8.e250870.2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0271-6"},{"key":"2025082703110807000_15.8.e250870.3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1049"},{"key":"2025082703110807000_15.8.e250870.4","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2001.01296.x"},{"key":"2025082703110807000_15.8.e250870.5","doi-asserted-by":"publisher","DOI":"10.1210\/endo-23-5-566"},{"key":"2025082703110807000_15.8.e250870.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"2025082703110807000_15.8.e250870.7","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmu036"},{"key":"2025082703110807000_15.8.e250870.8","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181c684b2"},{"key":"2025082703110807000_15.8.e250870.9","doi-asserted-by":"crossref","DOI":"10.1186\/s13633-018-0058-1","article-title":"Mode of clinical presentation and delayed diagnosis of turner syndrome: a single centre UK study","volume":"2018","author":"Apperley","year":"2018","journal-title":"Int J Pediatr Endocrinol"},{"key":"2025082703110807000_15.8.e250870.10","first-page":"1810-3","article-title":"Spontaneous pubertal development in Turner's syndrome. 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Endocrine Abstracts 2016;41.doi:10.1530\/endoabs.41.EP657","DOI":"10.1530\/endoabs.41.EP657"},{"key":"2025082703110807000_15.8.e250870.15","doi-asserted-by":"crossref","first-page":"228-230","DOI":"10.1111\/cen.13978","article-title":"Many women with turner syndrome lack protective antibodies to common respiratory pathogens, haemophilus influenzae type B and Streptococcus pneumoniae","volume":"91","author":"Swee","year":"2019","journal-title":"Clin Endocrinol"},{"key":"2025082703110807000_15.8.e250870.16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2266"},{"key":"2025082703110807000_15.8.e250870.17","doi-asserted-by":"crossref","unstructured":"Brook CGD , M\u00fcrset G , Zachmann M . Growth in children with 45,Xo turner\u2019s syndrome. Arch Dis Child 1974;49.doi:10.1136\/adc.49.10.789","DOI":"10.1136\/adc.49.10.789"},{"key":"2025082703110807000_15.8.e250870.18","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496795"},{"key":"2025082703110807000_15.8.e250870.19","first-page":"1","article-title":"New and consolidated therapeutic options for pubertal induction in hypogonadism: in-depth review of the literature","volume":"170","author":"Federici","year":"2021","journal-title":"Endocr Rev"},{"key":"2025082703110807000_15.8.e250870.20","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-02183"},{"key":"2025082703110807000_15.8.e250870.21","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2019.00685","article-title":"Estrogen replacement in young hypogonadal women\u2014transferrable lessons from the literature related to the care of young women with premature ovarian failure and transgender women","volume":"10","author":"Swee","year":"2019","journal-title":"Front Endocrinol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-250870","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:11:21Z","timestamp":1756289481000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-250870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8]]},"references-count":21,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2022,8,17]]},"published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1136\/bcr-2022-250870"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-250870","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8]]}}}