Article
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
The Journal of clinical endocrinology and metabolism - 27 Sept 2021
Lenherr-Taube Nina, Young Edwin J, Furman Michelle, Elia Yesmino, Assor Esther, Chitayat David, Uster Tami, Kirwin Susan, Robbins Katherine, Vinette Kathleen M B, Daneman Alan, Marshall Christian R, Collins Carol, Thummel Kenneth, Sochett Etienne, Levine Michael A
Abstract excerpt
CONTEXT: Idiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH)2D) and low parathyroid hormone (PTH) levels, may present with mild to severe hypercalcemia during the first months of life. Biallelic variants in the CYP24A1 or SLC34A1 genes are associated with severe IIH. Little is known about milder forms. OBJECTIVE: This...
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