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Hyperparathyroidism in Patients With X-Linked Hypophosphatemia.

  • Lecoq, Anne-Lise1
  • Chaumet-Riffaud, Philippe2
  • Blanchard, Anne3
  • Dupeux, Margot4
  • Rothenbuhler, Anya5
  • Lambert, Benoit6
  • Durand, Emmanuel2
  • Boros, Erika5
  • Briot, Karine7
  • Silve, Caroline8
  • Francou, Bruno9
  • Piketty, Marie10
  • Chanson, Philippe1, 11
  • Brailly-Tabard, Sylvie9
  • Linglart, Agnès5, 11
  • Kamenický, Peter1, 11
  • 1 Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, Assistance Publique-Hôpitaux de Paris (AP-HP), Le Kremlin-Bicêtre, France. , (France)
  • 2 Hôpital de Bicêtre, Service de Biophysique et Médecine Nucléaire, AP-HP, Le Kremlin-Bicêtre, France. , (France)
  • 3 Hôpital Européen Georges Pompidou, Centre d'Investigations Cliniques 1418, AP-HP, Le Kremlin-Bicêtre, France. , (France)
  • 4 Hôpital de Bicêtre, Service d'Anatomie et Cytologie Pathologiques, AP-HP, Le Kremlin-Bicêtre, France. , (France)
  • 5 Hôpital de Bicêtre, Endocrinologie et Diabétologie de l'Enfant, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, AP-HP, Le Kremlin-Bicêtre, France. , (France)
  • 6 Hôpital de Bicêtre, Service de Chirurgie Viscérale et Digestive, AP-HP, Le Kremlin-Bicêtre, France. , (France)
  • 7 Hôpital Cochin, Service de Rhumatologie, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate Filière OSCAR, AP-HP, Paris, France. , (France)
  • 8 Hôpital Cochin, Service de Génétique et Biologie Moléculaires, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, AP-HP, Paris, France. , (France)
  • 9 Hôpital de Bicêtre, Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie, AP-HP, Le Kremlin-Bicêtre, France. , (France)
  • 10 Hôpital Necker, Service d'Explorations fonctionnelles Physiologie et Neurophysiologie, AP-HP, Paris, France. , (France)
  • 11 Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France. , (France)
Published Article
Journal of Bone and Mineral Research
Wiley (John Wiley & Sons)
Publication Date
Feb 26, 2020
DOI: 10.1002/jbmr.3992
PMID: 32101626


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 < 0.0001). 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. © 2020 American Society for Bone and Mineral Research. © 2020 American Society for Bone and Mineral Research.

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