Pediatric hypoparathyroidism: etiological and clinical evaluation in a tertiary center

This study aims to evaluate the etiology, clinical presentation, and management of pediatric hypoparathyroidism in a tertiary center.

A retrospective review was conducted on pediatric patients diagnosed with hypoparathyroidism at the Pediatric Endocrinology Clinic from March 2021 to June 2023. Data on demographic characteristics, presenting symptoms, laboratory findings, genetic analyses, and treatment outcomes were collected.

A total of 56 patients (31 females) were included. The median age at diagnosis of the patients was 5.5 years (range 0.04-17 years), and the median age of symptom onset was 5 years (range 0.04-16.5 years). The etiology was genetic and idiopathic in 39 patients (70.9%), with syndromic forms, familial isolated hypoparathyroidism, and hypomagnesemia identified. DiGeorge syndrome was present in 14 patients, making it the most common syndromic form. The syndromes associated with hypomagnesemia were those with mutations in the TRMP6 and CLDN16 genes. Sixteen patients (29.1%) had acquired causes, primarily post-thyroid surgery and autoimmune conditions. Common symptoms included muscle spasms (32.7%) and seizures (21.8%). Laboratory findings revealed a median serum calcium level of 6.7 mg/dL (3.8-8.5) and median serum phosphorus level of 7.7 (4.9-12.5) mg/dL. Treatment primarily involved calcitriol [The median dose of calcitriol is 25 ng/kg/day (range: 25-50 ng/kg/day)] and calcium [The median dose of calcium gluconate is 0.7 mL/kg (range: 0.5-1 mL/kg) and oral calcium is 1000 mg (range: 700-1300 mg)] supplementation. Intravenous calcium gluconate treatment was administered to 39 (70.6%) patients, oral calcium carbonate therapy was given to 16 (29.1%) patients, and calcitriol treatment was initiated for 51 (91.1%) patients. Complications such as nephrocalcinosis (7, 13.7%) and hypercalciuria (7, 13.7%) were observed in some patients.

This study emphasizes the significant genetic component, particularly syndromic, in pediatric hypoparathyroidism, highlighting the need for comprehensive genetic evaluation and a multidisciplinary approach for effective management, especially concerning complications. In this way, early and accurate diagnosis will reduce unnecessary tests, treatment approaches, and repeated hospital visits. Regular monitoring is essential to mitigate potential complications associated with long-term treatment.