Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population. Issue 2 (February 2021)

• Record Type: Journal Article
• Authors: El Allali, Yasmine; Hermetet, Coralie; Bacchetta, Justine; Amouroux, Cyril; Rothenbuhler, Anya; Porquet-Bordes, Valérie; Champigny, Marie-Alexandrine; Baron, Sabine; Barat, Pascal; Bony-Trifunovic, Hélène; Bourdet, Karine; Busiah, Kanetee; Cartigny-Maciejewski, Maryse; Compain, Florence; Coutant, Régis; Amsellem-Jager, Jessica; De Kerdanet, Marc; Magontier, Nathalie; Mignot, Brigitte; Richard, Odile; Rossignol, Sylvie; Soskin, Sylvie; Berot, Aurélie; Naud-Saudreau, Catherine; Salles, Jean-Pierre; Linglart, Agnès; Edouard, Thomas; Lienhardt-Roussie, Anne
• Is Part Of: European journal of endocrinology. Volume 184:Issue 2(2021)
• Page Start: 347
• Page End: 355
• Publication Date: 2021-02
• Subjects: Endocrinology -- Periodicals; 616.4005
• DOI: 10.1530/EJE-20-1119
• Languages: English
• ISSNs: 0804-4643

Abstract

Abstract : 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 infants with mutations) 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 children and adolescents with mutations). Although serum calcium levels did not differ between the two 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.