Case Report: Palopegteriparatide as a novel therapeutic option in pediatric autosomal dominant hypocalcemia type 1.

Introduction: Autosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic disorder caused by gain-of-function variants in the Case presentation: A 16-year-old boy presented with hypocalcemia, recurrent tetany, seizures, hypercalciuria, nephrocalcinosis, basal ganglia calcifications, and early-onset cataracts. He had been diagnosed with congenital hypoparathyroidism at 6 weeks of age. A heterozygous Intervention and outcomes: Owing to inadequate disease control on Standard-of-Care, off-label treatment with palopegteriparatide was initiated. The dose was adjusted to alleviate neuromuscular symptoms while reducing calcium-phosphate product. The patient subsequently reported complete resolution of tetany with improved biochemical stability, reduced phosphate levels, and a lower calcium-phosphate product. At the final maintenance dose, both alfacalcidol and calcium supplementation were successfully discontinued. Conclusion: This case demonstrates that palopegteriparatide may be a valuable therapeutic option in pediatric patients with ADH1 when conventional therapy fails to provide adequate control and while targeted therapies directed at the mutated CASR are not yet available. Carefully titrated PTH-based therapy can improve symptoms and mineral homeostasis, highlighting the need for further studies on its long-term safety and efficacy in children.