Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.

Iva Gueorguieva, Anya Rothenbuhler, Agnès Linglart, Justine Bacchetta, Régis Coutant, Thomas Edouard, Jean Pierre Salles, Valerie Porquet Bordes, Barbara Girerd, Brigitte Mignot, Emese Boros, Volha Zhukouskaya, Cyril Amouroux, Karine Briot, Peter Kamenicky, Anne Lise Lecoq, Christelle Audrain, Jugurtha Berkenou, Diana-Alexandra Ertl

Journal: European journal of endocrinology 2023;189(4):469-475

PMID: 37831782

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Abstract

OBJECTIVES

The aim of this study is to analyze height after cessation of growth (final height [FH]) and its evolution over the last decades in X-linked hypophosphatemia (XLH) patients in France, as the data on natural history of FH in XLH are lacking.

DESIGN

We performed a retrospective observational study in a large cohort of French XLH patients with available data on FH measurements.

MATERIALS AND METHODS

We divided patients into 3 groups according to their birth year: group 1 born between 1950 and 1974, group 2 born between 1975 and 2000, and group 3 born between 2001 and 2006, respectively, and compared their FHs.

RESULTS

A total of 398 patients were included. Mean FHs were the following: for group 1, -2.31 ± 1.11 standard deviation score (SDS) (n = 127), 156.3 ± 9.7 cm in men and 148.6 ± 6.5 cm in women; for group 2, -1.63 ± 1.13 SDS (n = 193), 161.6 ± 8.5 cm in men and 153.1 ± 7.2 cm in women; and for group 3, -1.34 ± 0.87 SDS (n = 78), 165.1 ± 5.5 cm in men and 154.7 ± 6 cm in women. We report a significant increase in mean FH SDS over 3 generations of patients, for both men and women (P < .001). Final height SDS in male (-2.08 ± 1.18) was lower than in female (-1.70 ± 1.12) (P = .002).

CONCLUSION

The FH of XLH patients in France increased significantly over the last decades. Even though men's FHs improved more than women's, men with XLH remain shorter reflecting a more severe disease phenotype. While the results are promising, most patients with XLH remain short leaving room for improvement.

Address: Pediatric Endocrinology Unit, Hôpital Universitaire de Bruxelles (HUB), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels 1020, Belgium.; AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filiere OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicetre Paris-Saclay Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.; AP-HP, Centre de Recherche Clinique Paris Saclay, Hôpital Bicêtre, Le Kremlin-Bicêtre 94270, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), 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, 78 rue du Général Leclerc, Le Kremlin-Bicêtre 94270, France.; Physiologie et Physiopathologie Endocriniennes, Université Paris-Saclay, Inserm, Le Kremlin-Bicêtre 94276, France.; Rheumatology Department, Université Paris-Cité, Cochin Hospital, Paris 75014, France.; Service de Néphrologie et Endocrinologie Pédiatriques, CHU de Montpellier, Montpellier 34090, France.; Faculté de Médecine, Université de Montpellier, Montpellier 34090, France.; Centres Maladies Rares Métabolisme du Calcium et du Phosphore et Maladies Osseuses Constitutionnelles, Filière de Santé Maladies Rares OSCAR, 34090 Montpellier, France.; AP-HP, Department of Endocrinology, Hôpital Cochin, Paris 75014, France.; Institut des Maladies Musculo-squelettiques, Laboratory Orofacial Pathologies, Imaging and Biotherapies URP2496 and FHU-DDS-Net, Dental School, and Plateforme d'Imagerie du Vivant (PIV), Université Paris Cité, Montrouge 92129, France.; Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Plateforme d'Expertise Maladies Rares Paris Saclay, Filière OSCAR, EndoRare and BOND ERN, Hôpital de Bicêtre, Le Kremlin-Bicêtre 94270, France.; Pediatric Endocrine Unit, CHU Lille, Université Lille, Lille 59800, France.; Service de Médecine Pédiatrique, CHRU J Minjoz, 3 Boulevard Fleming, Besançon 25030, France.; Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, Competence Centre for Bone Diseases, ERN BOND, OSCAR Network, Children's Hospital, Toulouse University Hospital, Toulouse 31059, France.; Unité d'Endocrinologie, Maladies Osseuses, Hôpital des Enfants, Centre de Référence des Maladies Rares du Calcium et du Phosphate, ENR BOND, Hôpital des Enfants, CHU de Toulouse, TSA 70034, Toulouse 31059, France.; INFINITY CENTER, INSERM CNRS UMR 1291, Université de Toulouse, Paul Sabatier Toulouse III, Hôpital Purpan, Toulouse 31024, France.; Endocrine, Bone Diseases and Genetics Unit, Toulouse University Hospital, Toulouse 31059, France.; Unité d' Endocrinologie Diabetologie Pédiatrique and Centre des Maladies Rares de la Réceptivité Hormonale, CHU-Angers, Angers 49055, France.; Centre de Référence des Maladies Rénales Rares, Centre de Référence des Maladies Rares du Calcium et du Phosphore, Filières Santé Maladies Rares OSCAR et ORKID, Filières Santé ERKNet et BOND, INSERM1033, Université de Lyon, Lyon 69372, France.

DOI: 10.1093/ejendo/lvad144

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MeSH Terms: Humans, Male, Female, Adult, Familial Hypophosphatemic Rickets, Cohort Studies, Body Height, Retrospective Studies, PHEX Phosphate Regulating Neutral Endopeptidase, Hypophosphatemia