Teriparatide for the treatment of primary hypoparathyroidism in children.

In this retrospective case series, the clinical data of four pediatric patients with primary hypoparathyroidism (PHPT) treated with teriparatide at the Endocrinology Department of Capital Center for Children's Health, Capital Medical University, from May 2018 to May 2025, were analyzed. All patients were male and from four unrelated families. The ages at onset were 8 months, 12 years, 3 days, and 8 years plus 9 months, respectively, with time from onset to diagnosis ranging from several days to 1 year. The primary clinical manifestations of PHPT included seizures, tetany, and limb numbness. Seizures were observed in the two younger patients, whereas tetany or limb numbness were noted in the two older patients. Physical examination revealed positive Trousseau's sign or facial nerve signs. Laboratory test results showed hypocalcium, hyperphosphatemia, and decreased parathyroid hormone (PTH). Imaging revealed basal ganglia calcification in one patient and multiple small renal calculi in another. A heterozygous pathogenic variant in the CASR gene was identified by whole-exome sequencing in three patients, confirming a diagnosis of autosomal dominant hypocalcemia type 1 (ADH-1). All four patients had poor responses to conventional therapy (calcium supplements + vitamin D or its derivatives) and were subsequently treated with teriparatide (20 μg/dose, subcutaneously, 1-2 doses daily), with dose frequency adjusted based on serum calcium levels. Following 1 to 6 months of treatment, all patients achieved favorable outcomes, including normalization of serum calcium levels and resolution of clinical symptoms. No known teriparatide-related side effects were observed during treatment. Upon treatment discontinuation, patients smoothly transitioned to conventional therapy. Serum calcium levels were maintained at the lower limit of normal. Three patients experienced resolved clinical symptoms, while one patient experienced occasional tetany and numbness when the medicine was taken irregularly. Teriparatide (rhPTH1-34) effectively corrected hypocalcemia and alleviated clinical symptoms in pediatric PHPT, with a favorable safety profile. Therefore, teriparatide can be considered for children with refractory PHPT who do not respond adequately to conventional therapies.