{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:10:45Z","timestamp":1791220245375,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,5,27]],"date-time":"2014-05-27T00:00:00Z","timestamp":1401148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>22q11\u00b72 deletion syndrome (22q11\u00b72<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>) is a relatively common yet under\u2010recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated hypocalcaemia in a well\u2010characterized sample of 138 adults with 22q11\u00b72<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content> (65\u00a0<jats:sc>m<\/jats:sc>, 73\u00a0F; mean age 34\u00b72, <jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> 11\u00b78, years) using laboratory studies and lifelong medical records. Logistic regression modelling was used to identify features associated with lifetime prevalence of hypocalcaemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the total sample, 111 (80\u00b74%) had a lifetime history of hypocalcaemia. Eleven (84\u00b76%) of 13 subjects with neonatal hypocalcaemia had documented recurrence of hypocalcaemia. Lifetime history of hypocalcaemia was associated with lifetime prevalence of hypoparathyroidism (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00\u00b70001) and hypothyroidism (<jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>0\u00b704), as statistically independent factors. Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (<jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>0\u00b702).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11\u00b72<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content> and that there is a high recurrence rate of neonatal hypocalcaemia. Hypomagnesaemia may contribute to hypocalcaemia by further suppressing parathyroid hormone (<jats:styled-content style=\"fixed-case\">PTH<\/jats:styled-content>). Although further studies are needed, the findings support regular lifelong follow\u2010up of calcium, magnesium, <jats:styled-content style=\"fixed-case\">PTH<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">TSH<\/jats:styled-content> levels in patients with 22q11\u00b72<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>. At any age, hypocalcaemia with hypoparathyroidism and\/or hypothyroidism may suggest a diagnosis of 22q11\u00b72<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12466","type":"journal-article","created":{"date-parts":[[2014,4,16]],"date-time":"2014-04-16T08:12:53Z","timestamp":1397635973000},"page":"190-196","source":"Crossref","is-referenced-by-count":73,"title":["Prevalence of hypocalcaemia and its associated features in 22q11\u00b72 deletion syndrome"],"prefix":"10.1111","volume":"81","author":[{"given":"Evelyn Ning Man","family":"Cheung","sequence":"first","affiliation":[{"name":"Clinical Genetics Research Program Centre for Addiction and Mental Health Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan R.","family":"George","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Centre for Addiction and Mental Health and Departments of Medicine and Pharmacology University of Toronto Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary A.","family":"Costain","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Medicine Saint John Regional Hospital Saint John NB Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle M.","family":"Andrade","sequence":"additional","affiliation":[{"name":"Toronto Western Hospital Krembil Neuroscience Centre Epilepsy Genetics Program Division of Neurology University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva W. 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