Idiopathic infantile hypercalcaemia (IIH) resulting from a loss-of-function mutation in the CYP24A1 gene in a young high-performance athlete: A case report with a literature review of adult presentations

Clin Endocrinol (Oxf). 2023 Oct;99(4):355-360. doi: 10.1111/cen.14954. Epub 2023 Jul 27.
No abstract available

Keywords: fluconazole; hypercalcaemia; rifampicin; vitamin D.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Adult
  • Humans
  • Hypercalcemia* / genetics
  • Loss of Function Mutation
  • Vitamin D
  • Vitamin D3 24-Hydroxylase / genetics

Substances

  • CYP24A1 protein, human
  • Vitamin D
  • Vitamin D3 24-Hydroxylase

Supplementary concepts

  • Hypercalcemia, Idiopathic, of Infancy