Clinical insights from diagnosis to outcomes in pediatric hypoparathyroidism and inactivating PTH/PTHrP signaling disorders
ENDOCRINE RESEARCH, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2026
- Doi Numarası: 10.1080/07435800.2026.2709865
- Dergi Adı: ENDOCRINE RESEARCH
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO)
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
Objective This study retrospectively evaluated the clinical, laboratory, and treatment characteristics of pediatric patients with hypoparathyroidism (HP) or inactivating PTH/PTHrP signaling disorders (iPPSD), focusing on metabolic parameters and long-term outcomes.Subjects and methods Twenty-three children with HP or iPPSD were included. Clinical, biochemical, and therapeutic data were assessed at diagnosis, after one year, and at the last follow-up. HP cases were classified as postsurgical or non-surgical.Results Of the cohort, 56.5% (n = 13) had HP and 43.5% (n = 10) had iPPSD. The median age at diagnosis was 13.2 years (6.8-15.1), with a median follow-up of 6.6 years (2.6-12.7). Within the HP group, four had postsurgical HP, two had DiGeorge syndrome, one had autoimmune HP, and six had idiopathic HP. All iPPSD patients fulfilled diagnostic criteria and demonstrated parathormone (PTH) resistance; two presented with characteristic features, including one with genetically confirmed iPPSD2. Hypocalcemia and hyperphosphatemia were milder in postsurgical HP compared with other groups, whereas calcium and phosphate levels did not differ between iPPSD and non-surgical HP. Intravenous calcium was required in 34.8% of symptomatic patients at diagnosis. Maintenance therapy with oral calcium and calcitriol was similar across groups. Postsurgical HP patients achieved normocalcemia significantly faster (p = 0.03). After one year, serum calcium levels increased significantly in the iPPSD and non-surgical HP groups (p = 0.005 and p = 0.008, respectively), whereas no significant change was observed in the postsurgical HP group (p = 0.07). Serum phosphorus levels declined only in the iPPSD group (p = 0.005), accompanied by a reduction in PTH levels (p = 0.005). At final follow-up, biochemical parameters remained stable, oral calcium requirements decreased in iPPSD and non-surgical HP (p = 0.02), and no renal complications were observed.Conclusion Pediatric HP and iPPSD show distinct profiles. Serum calcium levels increased during follow-up in the iPPSD and non-surgical HP groups, while postsurgical HP patients achieved normocalcemia more rapidly. In the iPPSD group, reductions in serum phosphorus and PTH levels suggested effective long-term biochemical control. Oral calcium supplementation decreased over time in iPPSD and non-surgical HP, whereas calcitriol doses remained stable, and no renal complications were observed, supporting the safety of current treatment strategies.