Hypoparathyroidism in children: a study of eight cases

Abstract

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its
action in the target tissues.
Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.
Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in
pediatric department of Hedi Chaker Hospital during the period 1994-2013.
Results: Eight patients (5 females and 3 males) were diagnosed with hypoparathyroidism during 20 years’s period. The median age at the onset
of first symptoms was 17,5 months (15 days- 5 years and 10 months).
Seizures were the most commonly presenting symptom and were seen in seven cases. Eight patients were diagnosed with hypoparathyroidism
(Di-Georges syndrome: one case, Sanjad Sakati syndrome: 3 case, kearns sayre syndrome: 1 case, autoimmune polyendocrinopathy
candidiasis- ectodermal dystrophy: one case, idiopathic hypoparathyroidism: two cases. Conventional treatment was based on calcium and
vitamin D analogs. The average of follow up was 5 years. Nephrocalcinosis was noted in two patients. The death occurred in five patients; it was
related to hypocalcaemia in one patient.
Conclusion: The diagnosis of hyperparathyroidism is easy; it’s established on the association of hypocalcaemia and hyperphosphatemia.
Etiologic approach is based on molecular findings. Vitamin D analog treatment of hypoparathyroidism in children involves the challenge, of
adjusting treatment dosage to minimize both symptomatic hypocalcemia and asymptomatic, but potentially kidney-damaging, hypercalciuria
causing nephrocalcinosis and renal insufficiency.