{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:30:25Z","timestamp":1760149825644,"version":"build-2065373602"},"reference-count":17,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T00:00:00Z","timestamp":1695254400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Edinburgh Children\u2019s Hospital Charity (ECHC)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>The association of coeliac disease (CD) in girls with Turner syndrome (TS) is well described. There is, however, a paucity of current research describing TS in patients with known CD. We report two cases of mosaic Turner syndrome diagnosed in girls with CD who failed to achieve expected catch-up growth despite strict adherence to a gluten-free diet (GFD) and the normalisation of TGA-IgA levels. We highlight the need to consider additional diagnoses in patients with CD and ongoing faltering growth. In such patients, referral to a paediatric endocrinologist and relevant investigations, including genetic investigations, should be considered if growth remains suboptimal after one year with a GFD. First-line investigations should include thyroid function, IGF-1, cortisol, gonadotrophins, oestrogen\/testosterone, prolactin, karyotype and a bone age X-ray. Clinical suspicion in this situation is key, as an early diagnosis of TS will allow timely treatment with growth hormone, inform discussion around ovarian function and allow screening for important TS associations.<\/jats:p>","DOI":"10.3390\/medicina59091693","type":"journal-article","created":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T21:08:36Z","timestamp":1695330516000},"page":"1693","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Turner Syndrome Mosaicism after Diagnosis of Coeliac Disease\u2014A High Index of Clinical Suspicion Required?"],"prefix":"10.3390","volume":"59","author":[{"given":"F.","family":"Ritchie","sequence":"first","affiliation":[{"name":"Departments of Paediatric Endocrinology, Royal Hospital for Children and Young People, 50 Little France Crescent, Edinburgh EH16 4TJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Macgill","sequence":"additional","affiliation":[{"name":"Departments of Gastroenterology, Royal Hospital for Children and Young People, 50 Little France Crescent, Edinburgh EH16 4TJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Cairney","sequence":"additional","affiliation":[{"name":"Departments of Gastroenterology, Royal Hospital for Children and Young People, 50 Little France Crescent, Edinburgh EH16 4TJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1596-860X","authenticated-orcid":false,"given":"S.","family":"Kiff","sequence":"additional","affiliation":[{"name":"Departments of Paediatric Endocrinology, Royal Hospital for Children and Young People, 50 Little France Crescent, Edinburgh EH16 4TJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Miles","sequence":"additional","affiliation":[{"name":"Departments of Paediatric Endocrinology, Royal Hospital for Children and Young People, 50 Little France Crescent, Edinburgh EH16 4TJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. M.","family":"Gillett","sequence":"additional","affiliation":[{"name":"Departments of Gastroenterology, Royal Hospital for Children and Young People, 50 Little France Crescent, Edinburgh EH16 4TJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"674896","DOI":"10.3389\/fmed.2021.674896","article-title":"Prevalence of Celiac Disease in Patients With Turner Syndrome: Systematic Review and Meta-Analysis","volume":"8","author":"AlNababteh","year":"2021","journal-title":"Front. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1097\/00005176-199805000-00002","article-title":"Celiac disease and Turner syndrome","volume":"26","author":"Bonamico","year":"1998","journal-title":"J. Pediatr. Gastroenterol. 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Child."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"5387","DOI":"10.18632\/oncotarget.23624","article-title":"Prevalence of celiac disease in patients with Down syndrome\u2013A meta-analysis","volume":"9","author":"Du","year":"2018","journal-title":"Oncotarget"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"103999","DOI":"10.1016\/j.ejmg.2020.103999","article-title":"Williams- Beuren Syndrome and celiac disease\u2013A real association?","volume":"63","author":"Pangallo","year":"2020","journal-title":"Eur. J Med. 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