Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population

in European Journal of Endocrinology
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  • 1 Y El Allali , Paediatric unit, Blois general Hospital , Blois, France
  • 2 C Hermetet, Epidemiology and public health unit, Regional University Hospital Centre Tours, Tours, France
  • 3 J Bacchetta, Nephrology, dermatology, rhumatology paediatric unit, Women Mother Children Hospital, INSERM UMR 1033, Bron, Bron, France
  • 4 C Amouroux, Pediatric Endocrinology and Nephrology , Centre Hospitalier Regional Universitaire de Montpellier, Montpellier, 34000, France
  • 5 A Rothenbuhler, Endocrinology, Hopital Bicêtre, 94270, France
  • 6 V Porquet-Bordes, Endocrine, Bone Diseases, and Genetics Unit, reference centre for rare diseases of the calcium and phosphate metabolism, OSCAR network, ERN BOND, INSERM UMR 1043/CNRS 5828, , University Hospital Centre Toulouse, Toulouse, France
  • 7 M Champigny, Paediatric unit, University Hospital Centre of Limoges, Limoges, France
  • 8 S Baron, Paediatric unit, University Hospital Centre Nantes, Nantes, France
  • 9 P Barat, Paediatrics, University Hospital Centre Bordeaux, Bordeaux, France
  • 10 H Bony-Trifunovic, Pediatrie Medicale , Centre Hospitalier Universitaire d'Amiens Hopital Sud, Amiens, France
  • 11 K Bourdet, Paediatric unit, University and Regional Hospital Centre Brest, Brest, France
  • 12 K Busiah, Endocrinology and Diabetology for Children, University Hospital Necker for Sick Children Neurosurgery Service, Paris, France
  • 13 M Cartigny-maciejewski, Paediatric Endocrinology unit, Lille University Hospital Center, Lille, France
  • 14 F Compain, Paediatric unit, University Hospital Centre Poitiers, Poitiers, France
  • 15 R Coutant, Paediatric Endocrinology Department, University Hospital Centre Angers, Angers, France
  • 16 J Amsellem-jager, Paediatric Endocrinology Department, University Hospital Centre Angers, Angers, France
  • 17 M De Kerdanet, Paediatric unit, University Hospital Centre Rennes, Rennes, France
  • 18 N Magontier, Paediatric unit, Regional University Hospital Centre Tours, Tours, France
  • 19 B Mignot, Paediatric unit, University Hospital Besançon , Besançon , France
  • 20 O Richard, Paediatric unit, Saint-Etienne University Hospital Bellevue Site, Saint-Etienne, France
  • 21 S Rossignol, Paediatric unit, University Hospitals Strasbourg, Strasbourg, France
  • 22 S Sylvie, pediatrics, hautepierre hospital, strasbourg, France
  • 23 A Berot, Paediatric unit , University Hospital Centre Reims, Reims, France
  • 24 N Catherine, pediatrics, lorient hospital, lorient, France
  • 25 J Salles, Endocrine, Bone Diseases, and Genetics Unit, reference centre for rare diseases of the calcium and phosphate metabolism, OSCAR network, ERN BOND, INSERM UMR 1043/CNRS 5828, University Hospital Centre Toulouse, Toulouse, France
  • 26 A Linglart, Pediatric endocrinology, APHP, Bicêtre Paris-Sud Hospital, Le Kremlin Bicetre, 94270, France
  • 27 T Edouard, Endocrine, Bone Diseases, and Genetics Unit, reference centre for rare diseases of the calcium and phosphate metabolism, OSCAR network, ERN BOND, INSERM UMR 1043/CNRS 5828, University Hospital Centre Toulouse, Toulouse, France
  • 28 A Lienhardt-Roussie, Paediatric unit , University Hospital Centre of Limoges, Limoges, France

Correspondence: Anne Lienhardt-Roussie, Email: anne.lienhardt@chu-limoges.fr
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Aim: To describe the presenting features and molecular genetics of primary hyperparathyroidism (PHPT) in the paediatric population.

Methods: Retrospective study of 63 children diagnosed with primary PHPT from 1998 to 2018.

Results: Compared to older children, infants were often asymptomatic (54 vs. 15%, p = 0.002) 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. CaSR and AP2S1 genes, ‘CaSR group’; 94% of mutated infants) whereas childhood and adolescence were associated with mutation in genes involved in parathyroid cell proliferation (i.e. MEN1, CDC73, CDKN1B and RET genes, ‘cell proliferation group’; 69% of mutated children and adolescents). Although serum calcium levels did not differ between the 2 groups (p = 0.785), serum PTH levels and the urinary calcium/creatinine ratio were significantly higher in ‘cell proliferation group’ patients compared to those in the ‘CaSR group’ (p = 0.001 and 0.028, respectively).

Conclusion: 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.

 

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