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Article

Nine-year cinacalcet monotherapy in a child with neonatal severe hyperparathyroidism caused by compound heterozygous CASR mutations.

Journal of pediatric endocrinology & metabolism : JPEM - 24 Aug 2026

Roztoczyńska Dorota, Preizner-Rzucidło Ewelina, Starzyk Jerzy

Abstract excerpt

OBJECTIVES: Neonatal severe primary hyperparathyroidism (NSHPT) is a rare, potentially life-threatening disorder caused by loss-of-function mutations in the CASR gene. Treatment traditionally includes hydration, diuretics, bisphosphonates, and parathyroidectomy. Long-term data on pharmacological therapy with cinacalcet are limited. CASE PRESENTATION: We report a female infant with NSHPT due to compound...

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Share to CASR gene
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hyperparathyroidism, Primary

Share to Infant, Newborn

Share to Infant, Newborn, Diseases

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Share to Receptors, Calcium-Sensing

Source

Identifiers

PMID: 42153511
DOI: 10.1515/jpem-2025-0704

Genes

CASR
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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