{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:57:54Z","timestamp":1790837874631,"version":"4.1.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:sec>\n<jats:title>Aim<\/jats:title>\n<jats:p>To describe the presenting features and molecular genetics of primary hyperparathyroidism (PHPT) in the paediatric population.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>Retrospective study of 63 children diagnosed with primary PHPT from 1998 to 2018.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Compared to older children, infants were often asymptomatic (54% vs 15%, <jats:italic>P<\/jats:italic>\u2009=\u20090.002) with a milder form of PHPT. When symptomatic, children and adolescents mostly presented with non-specific complaints such as asthenia, depression, weight loss, vomiting or abdominal pain. A genetic cause of PHPT was identified in about half of this cohort (52%). The infancy period was almost exclusively associated with mutation in genes involved in the calcium-sensing receptor (CaSR) signalling pathway (i.e. <jats:italic>CaSR<\/jats:italic> and <jats:italic>AP2S1<\/jats:italic> genes, \u2018CaSR group\u2019; 94% of infants with mutations) whereas childhood and adolescence were associated with mutation in genes involved in parathyroid cell proliferation (i.e. <jats:italic>MEN1<\/jats:italic>, <jats:italic>CDC73<\/jats:italic>, <jats:italic>CDKN1B<\/jats:italic> and <jats:italic>RET<\/jats:italic> genes, \u2018cell proliferation group\u2019; 69% of children and adolescents with mutations). Although serum calcium levels did not differ between the two groups (<jats:italic>P<\/jats:italic>\u2009=\u20090.785), serum PTH levels and the urinary calcium\/creatinine ratio were significantly higher in \u2018cell proliferation group\u2019 patients compared to those in the \u2018CaSR group\u2019 (<jats:italic>P<\/jats:italic>\u2009=\u20090.001 and 0.028, respectively).<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>Although far less common than in adults, PHPT can develop in children and is associated with significant morbidity. Consequently, this diagnosis should be considered in children with non-specific complaints and lead to monitoring of mineral homeostasis parameters. A genetic cause of PHPT can be identified in about half of these patients.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-20-1119","type":"journal-article","created":{"date-parts":[[2020,12,19]],"date-time":"2020-12-19T00:12:24Z","timestamp":1608336744000},"page":"343-351","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":17,"title":["Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population"],"prefix":"10.1093","volume":"184","author":[{"given":"Yasmine","family":"El Allali","sequence":"first","affiliation":[{"name":"1Paediatric Unit, Blois General Hospital, Blois, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coralie","family":"Hermetet","sequence":"additional","affiliation":[{"name":"2Epidemiology and Public Health Unit, Tours University Hospital, Tours, Centre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Bacchetta","sequence":"additional","affiliation":[{"name":"3Service de N\u00e9phrologie, Rhumatologie et Dermatologie P\u00e9diatriques, Centre de R\u00e9f\u00e9rence des Maladies Rares du Calcium et du Phosphore, H\u00f4pital Femme M\u00e8re Enfant, INSERM UMR 1033, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Amouroux","sequence":"additional","affiliation":[{"name":"4Paediatric Unit, Montpellier University Hospital, Montpellier, Languedoc-Roussillon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[{"name":"5Assistance Publique-H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Bic\u00eatre Paris Saclay, Endocrinology and Diabetology for Children, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, OSCAR Network, ERN BOND, Le Kremlin-Bic\u00eatre, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Porquet-Bordes","sequence":"additional","affiliation":[{"name":"6Endocrine, Bone Diseases, and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, OSCAR Network, ERN BOND, Children\u2019s Hospital, Toulouse University Hospital, INSERM UMR 1043\/CNRS 5828, Paul Sabatier University, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Alexandrine","family":"Champigny","sequence":"additional","affiliation":[{"name":"7Paediatric Unit, Limoges University Hospital, Limoges, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Baron","sequence":"additional","affiliation":[{"name":"8Paediatric Unit, Nantes University Hospital, Nantes, Pays de la Loire, 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