659 Hypoparathyroidism and Pseudo-Hypoparathyroidim: About 9 Cases

Abstract

Introduction Hypoparathyroidism(HP) is an uncommon disorder of calcium metabolism characterized by hypocalcemia and hyperphosphatemia due to impaired parathyroid hormone (PTH) secretion. The pseudo-hypoparathyroidism(PHP) is characterized by a high level of PTH due to peripheral PTH resistance. Objective Describe clinical, biochemical, radiological profile, treatment and outcome in 9 patients with HP and PHP seen over a period of 24 years. Methods This study was performed in the pediatric department of Sfax during 24 years (from January 1988 to April 2012). The diagnosis of HP and PHP was based on demonstration of hypocalcemia, hyperphosphatemia with low or elevated PTH, respectively. Results During the period of study, 9 children having HP or PHP were admitted. There were 5 girls and 4 boys. The mean age at presentation was 44 months (15 days- 10 years). The most common presenting manifestation was seizures (8cases) followed by carpopedal spasm in one case. The mean serum calcium and inorganic phosphate concentrations were 1, 51 mmol/l and 3 mmol/l, respectively. Hypoparathyroidism's etiologies were: autoimmune polyendocrine syndrome (2cases), idiopathic hypoparathyroidism (3cases), kearns sayer syndrome (1cas). PHP was diagnosed in 3 cases; among them, 2 children had Fahr syndrome. All patients were treated with oral calcium, active vitamin D. 2 patients died; the cause of death was not related to their HP. Conclusion HP is a rare endocrinopathy in childhood. The etiological diagnosis strategy needs many investigations especially genetic analysis