Pediatric Hypoparathyroidism: Etiological and Clinical Evaluation in a Tertiary Center

Purpose This study aims to evaluate the etiology, clinical presentation, and management of pediatric hypoparathyroidism in a tertiary center. Methods 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. Results A total of 56 patients (31 females, median age 5.5 years) were included. The etiology was genetic in 39 patients (70.9%), with syndromic forms, familial isolated hypoparathyroidism, and hypomagnesemia identified. 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 and hyperphosphatemia in all patients. Treatment primarily involved calcitriol and calcium supplementation. Complications such as nephrocalcinosis and hypercalciuria were observed in some patients. Conclusion This study highlights the significant genetic component in pediatric hypoparathyroidism, necessitating comprehensive genetic evaluation and a multidisciplinary approach for effective management. Regular monitoring is essential to mitigate potential complications associated with long-term treatment.