Case Reports in Endocrinology / 2019 / Article / Tab 2

Case Report

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

Table 2

Clinical and biochemical findings in the patient’s first degree family members.


Age (years)52532620
History of nephrolithiasisNoNoYesNo
Total calcium (mg/dL)
Ionized calcium (mmol/L)
Phosphate (mg/dL)
PTH (pg/mL)1718118
25 hydroxyvitamin D (ng/mL)7.817.328.422.5
1,25- dihydroxyvitamin D (pg/mL)39377266

The reported values are the mean of two independent samples collected in two consecutive days. For family member identification see Figure 1(b). See Table 1 for the normal adult reference range at our laboratory and details about 25(OH)D and 1,25(OH)2D assays.

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