Background: Primary hyperparathyroidism (PHPT) in children and adolescents is rare. Sporadic forms are more frequent and correspond, usually, with an adenoma (73%). Most rare familial forms (7%) are related to hyperplasia. They may be isolated or integrate with multiple endocrine neoplasia (MEN). The PHPT is revealed mostly by chronic bone pain increased by pressure, walking and exercise, arthralgia, growth failure and nonspecific late deformities.
Objective and hypotheses: Report clinical and paraclinical features of the HTP in children and adolescents.
Method: This is a retrospective study of ten patients with PHPT identified in 20 years. All underwent clinical examination and paraclinical assessment looking for aetiology of PHPT (cervical ultrasound±MIBI scintigraphy), bone repercussion (SKELETAL radiography, BMD), cardiac repercussion (ECG, cardiac Doppler ultrasound), renal repercussion (ultrasound) and the genetic study of the locus of menin.
Results: Mean age at diagnosis was 15±0.8 years (1017). The sex ratio F/G was 4. The reason for consultation are: bone pain and muscular fatigability (70%), bone deformities (10%), pseudomyopathie (10%), systematic research in the case of NEM (10%). Clinical presentation was symptomatic in all cases: anorexia, constipation, abdominal pain, bone pain, short stature: Average height (-2.5 DS/M SEMPE; -2/TC), drowsiness, behavioral disorders and memory disorders with reduced performance school and bone deformity. A waddling gait was observed in one case. Biological assessment was characteristic: calcemia average 115±1.5 mg/l (100120), PTH average 80±0.6 pg/ml (65120). Radiological investigation showed adenoma in 70% and hyperplasia in 30%. He did not repercussion, There was an exception in cases of osteoporosis. The search for MEN 1 was positive in three cases.
Conclusion: PHPT is rare in children. Sporadic or familial, or genetic or not, it must be detected before any clinical abnormalities suggestive. Its management must be early to prevent complications.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology