Case Reports in Endocrinology / 2019 / Article / Fig 2

Case Report

Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature

Figure 2

LC-MS/MS chromatogram of dihydroxylated vitamin D metabolites. Serum samples were prepared by immunoextraction and derivatized with DMEQ-TAD. Peaks corresponding to 6S and 6R isomers of DMEQ-TAD adducts of 24,25(OH)2D3 and 1,25(OH)2D3 were observed using the multiple reaction monitoring (MRM) transition of mass/charge (m/z) 762.3- ->468.1+484.1, from which serum concentrations of these metabolites were determined. The figure reveals the dramatically reduced concentration of 24,25(OH)2D3 in the proband II.3 as well as elevated 1,25(OH)2D3, in comparison to unaffected family members.

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