{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T20:01:28Z","timestamp":1791489688766,"version":"4.3.4"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T00:00:00Z","timestamp":1582675200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2020,3,27]],"date-time":"2020-03-27T00:00:00Z","timestamp":1585267200000},"content-version":"vor","delay-in-days":30,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>X-linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL 171036 v 0) recruited XLH adult patients in a single tertiary referral center. Each patient was explored in standardized conditions and compared with two healthy volunteers, matched for sex, age, and 25-OH vitamin D concentrations. The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. Sixty-eight patients (51 women, 17 men) were enrolled and matched with 136 healthy volunteers. Patients had higher PTH concentrations compared with healthy controls (53.5\u2009ng\/L, interquartile range [IQR] 36.7\u201372.7 versus 36.0\u2009ng\/L, IQR 27.7\u201344.0, p\u2009&amp;lt;\u2009.0001). Hyperparathyroidism was observed in 17 patients of 68 (25%). In patients, a positive relationship between PTH and calcium concentrations and a negative relationship between PTH and phosphate concentrations were observed. Seven (10%) patients (3 premenopausal women, 1 postmenopausal woman, and 3 men) were diagnosed with hypercalcemic hyperparathyroidism. All underwent parathyroid surgery, with consecutive normalization of calcium and PTH concentrations. Hyperparathyroidism is a frequent complication in XLH adult patients. Disruption of the physiological regulation of PTH secretion contributes to parathyroid disease. Early-onset hypercalcemic hyperparathyroidism can be effectively and safely cured by surgical resection. \u00a9 2020 American Society for Bone and Mineral Research.<\/jats:p>","DOI":"10.1002\/jbmr.3992","type":"journal-article","created":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T14:24:10Z","timestamp":1582727050000},"page":"1263-1273","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":58,"title":["Hyperparathyroidism in Patients With X-Linked Hypophosphatemia"],"prefix":"10.1093","volume":"35","author":[{"given":"Anne-Lise","family":"Lecoq","sequence":"first","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, Fili\u00e8re OSCAR Assistance Publique-H\u00f4pitaux de Paris (AP-HP) Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Chaumet-Riffaud","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Service de Biophysique et M\u00e9decine Nucl\u00e9aire AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Blanchard","sequence":"additional","affiliation":[{"name":"H\u00f4pital Europ\u00e9en Georges Pompidou, Centre d'Investigations Cliniques 1418 AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot","family":"Dupeux","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Service d'Anatomie et Cytologie Pathologiques AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Endocrinologie et Diab\u00e9tologie de l'Enfant, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, Fili\u00e8re OSCAR AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Lambert","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Service de Chirurgie Visc\u00e9rale et Digestive AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Durand","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Service de Biophysique et M\u00e9decine Nucl\u00e9aire AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Boros","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Endocrinologie et Diab\u00e9tologie de l'Enfant, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, Fili\u00e8re OSCAR AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Briot","sequence":"additional","affiliation":[{"name":"H\u00f4pital Cochin, Service de Rhumatologie, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate Fili\u00e8re OSCAR AP-HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Silve","sequence":"additional","affiliation":[{"name":"H\u00f4pital Cochin, Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, Fili\u00e8re OSCAR AP-HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Francou","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Pharmacog\u00e9n\u00e9tique et Hormonologie AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Piketty","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker, Service d'Explorations fonctionnelles Physiologie et Neurophysiologie AP-HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Chanson","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes Le Kremlin-Bic\u00eatre France"},{"name":"H\u00f4pital de Bic\u00eatre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, Fili\u00e8re OSCAR Assistance Publique-H\u00f4pitaux de Paris (AP-HP) Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Brailly-Tabard","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Bic\u00eatre, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Pharmacog\u00e9n\u00e9tique et Hormonologie AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes Le Kremlin-Bic\u00eatre France"},{"name":"H\u00f4pital de Bic\u00eatre, Endocrinologie et Diab\u00e9tologie de l'Enfant, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, Fili\u00e8re OSCAR AP-HP Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kamenick\u00fd","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes Le Kremlin-Bic\u00eatre France"},{"name":"H\u00f4pital de Bic\u00eatre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, Fili\u00e8re OSCAR Assistance Publique-H\u00f4pitaux de Paris (AP-HP) Le Kremlin-Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,2,26]]},"reference":[{"issue":"2","key":"2024031418595097100_jbmr3992-bib-0001","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng1095-130","article-title":"A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. 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