{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T22:39:27Z","timestamp":1785451167437,"version":"3.56.0"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,10,19]],"date-time":"2015-10-19T00:00:00Z","timestamp":1445212800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004085","name":"Ministry of Education, Science and Technology","doi-asserted-by":"publisher","award":["2011\u20100019674"],"award-info":[{"award-number":["2011\u20100019674"]}],"id":[{"id":"10.13039\/501100004085","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>Hypoparathyroidism is characterized by hypocalcaemia, hyperphosphataemia, and low or inappropriately normal parathyroid hormone (<jats:styled-content style=\"fixed-case\">PTH<\/jats:styled-content>) levels. Idiopathic or genetic drivers are the predominant causes of hypoparathyroidism in paediatric\u2010age patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study investigated the aetiology and clinical course of primary hypoparathyroidism in infancy and childhood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and measurements<\/jats:title><jats:p>This study included 37 patients (23 males, 14 females) with primary hypoparathyroidism diagnosed prior to 18 years of age. We analysed aetiologies, initial presentation, age at diagnosis, endocrine and radiological findings, and outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The median age at presentation was 1\u00b77 months (range 1 day\u201317 years), and the mean follow\u2010up duration was 7\u00b70 \u00b1 5\u00b73 years (range 0\u00b75\u201316\u00b78 years). Our cohort included 22 cases (59\u00b75%) of 22q11\u00b72 microdeletion syndrome. Other aetiologies included hypoparathyroidism\u2013deafness\u2013renal dysplasia syndrome (5\/37, 13\u00b75%) and one patient each with autoimmune polyglandular syndrome type 1, Kearns\u2013Sayre syndrome and Kenny\u2013Caffey syndrome. The remaining 7 (18\u00b79%) patients were classified as idiopathic hypoparathyroidism cases. Among the 15 patients who underwent brain imaging, 5 (33\u00b73%) had basal ganglia calcification. Among the 26 patients examined by renal imaging, 5 (19\u00b72%) had either nephrocalcinosis or a renal stone. After 11 months of calcium or calcitriol supplementation, 16 patients (43\u00b72%) discontinued medication. The final <jats:styled-content style=\"fixed-case\">PTH<\/jats:styled-content> levels were significantly higher in patients with transient hypoparathyroidism than those with permanent hypoparathyroidism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Identification of the genetic aetiologies of hypoparathyroidism makes it possible to predict patient outcomes and provide appropriate genetic counselling. Long\u2010term treatment with calcium and calcitriol necessitates monitoring for renal complications.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12944","type":"journal-article","created":{"date-parts":[[2015,9,19]],"date-time":"2015-09-19T06:42:00Z","timestamp":1442644920000},"page":"790-796","source":"Crossref","is-referenced-by-count":45,"title":["Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism"],"prefix":"10.1111","volume":"83","author":[{"given":"Ja Hye","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Paediatrics Asan Medical Centre Children's Hospital University of Ulsan College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young\u2010Lim","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Soonchunhyang University Bucheon Hospital Soonchunhyang University College of Medicine Bucheon 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