Regarding Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11, and GATA3 Mutations in Parathyroidology

2026-06-11

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İlker Şengül *

Demet Şengül

DOI：10.1111/cen.70170

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This correspondence critically evaluates the diagnostic and therapeutic paradigms presented by Ekaterina Bibik et al. in their analysis of rare hereditary hypoparathyroidism involving CASR, GNA11, and GATA3 mutations. While the case series provides valuable genomic data, the reported decade-long diagnostic delays—particularly the misidentification of mineral disorders as primary epilepsy—unmask a profound systemic failure in clinical vigilance regarding neuroimaging findings like Fahr syndrome. We emphasize that current “conventional” management, characterized by aggressive calcium and vitamin D supplementation, constitutes a precarious pharmacological tightrope that risks irreversible iatrogenic organ injury, as evidenced by the acute renal failure reported in Case 3. The necessity for early molecular screening is underscored not merely for academic classification but as an essential conduit to physiological homeostasis through emerging PTH analogs. Ultimately, we kindly argue for a transition from reactive symptom suppression to a precision-medicine framework that mitigates the long-term systemic sequelae of these rare endocrinopathies.

Keywords:

autosomal dominant hypocalcemia

CASR

GATA3

hypoparathyroidism

parathyroid gland

parathyroidology

Regarding Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11, and GATA3 Mutations in Parathyroidology

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