The phenotype varies from life-threatening forms in the infancy to milder forms in the adulthood.<h4>Case presentation</h4>We report a case of a 17-year-old woman with a history of nephrolithiasis, mild PTH-independent hypercalcemia (10,5mg/dL), and high serum 1,25(OH)<sub>2</sub>D concentrations (107pg/mL). This evidence concerns the gene PTH and nephrolithiasis.