Idiopathic Infantile Hypercalcaemia—Genetic, Biochemical and Clinical Outcomes in a Small Cohort
Authors' conclusion
IIH occurred at a younger age than typically reported. Biochemical findings were suggestive of variations in calcium sensing and/or vitamin D metabolism; however, only common, non-pathogenic genetic variants were identified. Prolonged use of low calcium feeds should be monitored closely with PTH measurements due to the potentially deleterious effect on bone health.
Study context
- Population
- Infants with idiopathic infantile hypercalcaemia (IIH), diagnosed March 2011–March 2014genetic testing in 9
- Participants
- 14 infants
- Outcome
- Biochemical profile at presentation
- Follow-up
- Presentation
Methodological detailsretrospective analysis of clinical records
- Retrospective analysis of clinical records
Main finding
As reported in the abstract
- Age at presentation, median [range]
- 17 days [5-53]
- Calcium, median [range]
- 2.92 mmol/L [2.79-4.03]
- PTH suppressed or inappropriately normal, median [range]
- 0.85pmol/L [0.3-3.1]
- Urinary calcium:creatinine high or normal, median [range]
- 3.3 mmol/mmol [0.4-7.9]
- 25OHD normal or low, median [range]
- 48 nmol/L [17-218]
Observational data: associations, not effects.
Further findings
Response to low calcium formula
- Subsequent elevated PTH
- 9/14
- PTH, median
- 8.2 pmol/L
- Associated low 25OHD, median
- 33 nmol/L
- Serum calcium despite upper part of reference interval, median
- 2.67 mmol/L
- Serum calcium dropped in all treated with low calcium formula
Genetic testing (CASR, AP2S1, GNA11, CYP24A1)
- Common non-pathogenic variants
- 7/9
- More than 1 common non-pathogenic variant
- 5
- No pathogenic genetic variants were identified
- Genetic testing in nine infants
Original publication
Idiopathic Infantile Hypercalcaemia—Genetic, Biochemical and Clinical Outcomes in a Small Cohort. Clin Endocrinol (Oxf). Published 19 May 2025. doi:10.
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