PMID- 32101626 OWN - NLM STAT- MEDLINE DCOM- 20210629 LR - 20211204 IS - 1523-4681 (Electronic) IS - 0884-0431 (Linking) VI - 35 IP - 7 DP - 2020 Jul TI - Hyperparathyroidism in Patients With X-Linked Hypophosphatemia. PG - 1263-1273 LID - 10.1002/jbmr.3992 [doi] AB - 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 ng/L, interquartile range [IQR] 36.7-72.7 versus 36.0 ng/L, IQR 27.7-44.0, p < .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. (c) 2020 American Society for Bone and Mineral Research. CI - (c) 2020 American Society for Bone and Mineral Research. FAU - Lecoq, Anne-Lise AU - Lecoq AL AD - Hopital de Bicetre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphate, Filiere OSCAR, Assistance Publique-Hopitaux de Paris (AP-HP), Le Kremlin-Bicetre, France. FAU - Chaumet-Riffaud, Philippe AU - Chaumet-Riffaud P AD - Hopital de Bicetre, Service de Biophysique et Medecine Nucleaire, AP-HP, Le Kremlin-Bicetre, France. FAU - Blanchard, Anne AU - Blanchard A AD - Hopital Europeen Georges Pompidou, Centre d'Investigations Cliniques 1418, AP-HP, Le Kremlin-Bicetre, France. FAU - Dupeux, Margot AU - Dupeux M AD - Hopital de Bicetre, Service d'Anatomie et Cytologie Pathologiques, AP-HP, Le Kremlin-Bicetre, France. FAU - Rothenbuhler, Anya AU - Rothenbuhler A AD - Hopital de Bicetre, Endocrinologie et Diabetologie de l'Enfant, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphate, Filiere OSCAR, AP-HP, Le Kremlin-Bicetre, France. FAU - Lambert, Benoit AU - Lambert B AD - Hopital de Bicetre, Service de Chirurgie Viscerale et Digestive, AP-HP, Le Kremlin-Bicetre, France. FAU - Durand, Emmanuel AU - Durand E AD - Hopital de Bicetre, Service de Biophysique et Medecine Nucleaire, AP-HP, Le Kremlin-Bicetre, France. FAU - Boros, Erika AU - Boros E AD - Hopital de Bicetre, Endocrinologie et Diabetologie de l'Enfant, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphate, Filiere OSCAR, AP-HP, Le Kremlin-Bicetre, France. FAU - Briot, Karine AU - Briot K AD - Hopital Cochin, Service de Rhumatologie, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphate Filiere OSCAR, AP-HP, Paris, France. FAU - Silve, Caroline AU - Silve C AD - Hopital Cochin, Service de Genetique et Biologie Moleculaires, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphate, Filiere OSCAR, AP-HP, Paris, France. FAU - Francou, Bruno AU - Francou B AD - Hopital de Bicetre, Laboratoire de Genetique Moleculaire, Pharmacogenetique et Hormonologie, AP-HP, Le Kremlin-Bicetre, France. FAU - Piketty, Marie AU - Piketty M AD - Hopital Necker, Service d'Explorations fonctionnelles Physiologie et Neurophysiologie, AP-HP, Paris, France. FAU - Chanson, Philippe AU - Chanson P AD - Hopital de Bicetre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphate, Filiere OSCAR, Assistance Publique-Hopitaux de Paris (AP-HP), Le Kremlin-Bicetre, France. AD - Universite Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicetre, France. FAU - Brailly-Tabard, Sylvie AU - Brailly-Tabard S AD - Hopital de Bicetre, Laboratoire de Genetique Moleculaire, Pharmacogenetique et Hormonologie, AP-HP, Le Kremlin-Bicetre, France. FAU - Linglart, Agnes AU - Linglart A AD - Hopital de Bicetre, Endocrinologie et Diabetologie de l'Enfant, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphate, Filiere OSCAR, AP-HP, Le Kremlin-Bicetre, France. AD - Universite Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicetre, France. FAU - Kamenicky, Peter AU - Kamenicky P AD - Hopital de Bicetre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphate, Filiere OSCAR, Assistance Publique-Hopitaux de Paris (AP-HP), Le Kremlin-Bicetre, France. AD - Universite Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicetre, France. LA - eng PT - Journal Article PT - Observational Study DEP - 20200327 PL - England TA - J Bone Miner Res JT - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research JID - 8610640 RN - 0 (FGF23 protein, human) RN - 0 (Parathyroid Hormone) RN - 0 (Phosphates) RN - 1406-16-2 (Vitamin D) RN - 7Q7P4S7RRE (Fibroblast Growth Factor-23) RN - SY7Q814VUP (Calcium) SB - IM MH - Adult MH - Calcium MH - *Familial Hypophosphatemic Rickets/complications MH - Female MH - Fibroblast Growth Factor-23 MH - Humans MH - *Hyperparathyroidism/complications/epidemiology MH - Male MH - Parathyroid Hormone MH - Phosphates MH - Vitamin D OTO - NOTNLM OT - FGF23 OT - HYPERPARATHYROIDISM OT - PARATHYROID HORMONE OT - PHEX OT - X-LINKED HYPOPHOSPHATEMIA EDAT- 2020/02/27 06:00 MHDA- 2021/06/30 06:00 CRDT- 2020/02/27 06:00 PHST- 2019/09/30 00:00 [received] PHST- 2020/02/17 00:00 [revised] PHST- 2020/02/22 00:00 [accepted] PHST- 2020/02/27 06:00 [pubmed] PHST- 2021/06/30 06:00 [medline] PHST- 2020/02/27 06:00 [entrez] AID - 10.1002/jbmr.3992 [doi] PST - ppublish SO - J Bone Miner Res. 2020 Jul;35(7):1263-1273. doi: 10.1002/jbmr.3992. Epub 2020 Mar 27.