Clinical analysis of 14 cases of pseudohypoparathyroidism in children

Abstract

Objective To analyze the clinical characteristics and treatment of pseudohypoparathyroidism(PHP) in children and to increase clinicians′understanding of this disorder. Methods From January 2008 to November 2018, a total of 14 PHP patients at our hospital were retrospectively analyzed, as regarding the clinical manifestation, laboratory examination and imaging data.The patients were further divided into two groups according to onset age: group A(under 1 year) and group B(over or equal to 1 year). The laboratory findings were compared between the two groups. Results Of the 14 patients(10 boys and 4 girls), the median age of onset was 12 years(range: 1 day to 16 years). Epilepsy is one of the most common manifestations of PHP.Laboratory findings include hypocalcemia(1.06-2.18mmol/L), hyperphosphatemia(2.1-3.5 mmol/L), and elevated concentrations of PTH(105.6-733.0 pg/ml). PTH levels were significantly lower in the group A than in group B(Z=2.07, P=0.042). Five patients were found to have calcifications in bilateral basal ganglia and cerebral parenchyma by head CT.All the patients were improved after treatment, which included calcium gluconate injection to control tetany, calcium supplement combined with vitamin D and/or calcitriol orally. Conclusion For children who presented frequent hypocalcemia tetany and calcifications in head CT, serum calcium, phosphorus, PTH levels should be further investigated to make a correct diagnosis.Calcium supplement combined with vitamin D or its metabolites is an effective therapy for PHP children. Key words: Pseudohypoparathyroidism; Tetany; Children