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.

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Background Child maltreatment includes physical, psychological, sexual abuse and acts of neglect. Among the resulting non-accidental injuries, burns are responsible for an important morbi-mortality. The main objective was to build a detection algorithm of non-accidental paediatric burns (NAB), using ICD-10 codes in the hospital resumes from the French Hospital Discharge Database (HDD). Methods Children aged 0 to 16 years old hospitalised at the University Hospital of Tours from 2012 to 2017 with a coded burn were included. “Probable” or “possible” HDD cases of NAB were defined based on specific ICD-10 codes during the inclusion stay or the previous year. A chart review was performed on all the HDD cases and HDD non cases matched on sex and age with a 1:2 ratio. Performance parameters were estimated for three clinical definitions of suspected child maltreatment: excluding neglect, including neglect with restriction then broad definition. For clinical cases, report to the judicial authority (RJA) or worrying information (WI) was searched. Results Among the 253 included children, 83 “probable” cases and 153 non cases were analysed. Sensitivity varied from 48% (95%CI [36-60]) to 90% [55-100] when excluding neglect, specificity from 70% [63;77] to 68% [61;74]. The positive and negative likelihood ratios varied respectively from 1,6 [1,2;2,3] to 2,8 [2,1;3,7] and from 0,7 [0,6;0,9] to 0,1 [0,0;0,9]. The proportion of clinical cases with no RJA/WI without reason varied from 0 (when excluding neglect) to > 85% (with broadest definition); all corresponded to a possible isolated neglect. Conclusions The performances of the algorithm varied tremendously according to the clinical definition level of child maltreatment. Neglect is obviously difficult to clinically detect. Training for healthcare professionals and qualitative studies on obstacles to RJA/WI should be added to this work. Key messages The performances of an algorithm to detect non-accidental pediatric burns (maltreatment) using the French hospital discharge database dropped when including neglect, difficult to diagnose clinically. Training for healthcare professionals and qualitative studies on obstacles to the judicial authority (RJA) or worrying information (WI) should be added to this diagnostic study.