Observational studyEndocrine2026
Clinical spectrum and long-term follow-up of non-surgical hypoparathyroidism with novel AIRE and GATA3 variants from India.
Observational study in Endocrine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeNon-surgical hypoparathyroidism is a rare endocrine disorder associated with substantial long-term morbidity, with limited data from low- and middle-income countries. MATERIALS AND
methodsThis single-centre ambispective observational cohort study included 27 patients with non-surgical hypoparathyroidism evaluated at a University Hospital between 2013 and 2025. Clinical manifestations, biochemical parameters, treatment requirements, complications, and outcomes were prospectively recorded. Patients with syndromic features underwent whole-exome sequencing.
resultsThe median age at presentation was 16 years (range 1-60), with a mean follow-up of 6.9 ± 2.9 years. Neuromuscular manifestations of hypocalcaemia were the most frequent presenting features. Severe hypocalcaemia was observed in 23(85.2%) of patients, with inappropriately low parathyroid hormone levels in all cases. Conventional therapy significantly improved mean serum calcium concentrations to 7.95 ± 0.59 mg/dL. Basal ganglia calcification was detected in 15(55.6%), cataracts in 7 (25.9%), QT prolongation in 5(18.5%), and nephrocalcinosis in 4(14.8%). Four patients had syndromic hypoparathyroidism. Genetic analysis identified a novel homozygous splice-site variant in AIRE (c.308-1G > C), a novel frameshift heterozygous AIRE variant (c.758_771del; p.Lys253SerfsTer13), and a novel heterozygous frameshift duplication in GATA3 (c.159dup; p.Asp54Argfs*250). Calcium dose correlated positively with 24-hour urinary calcium excretion (ρ = 0.59, p = 0.002) and nephrocalcinosis (ρ = 0.45, p = 0.018).
conclusionNon-surgical hypoparathyroidism is associated with significant long-term neurological and renal complications. Renal morbidity is primarily related to treatment intensity and hypercalciuria, whereas extra-renal manifestations appear independent of urinary calcium losses. Identification of novel AIRE and GATA3 mutations expanded the genetic spectrum of syndromic hypoparathyroidism in Indian patients.
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