Endocrine Abstracts

Introduction: 24-hydroxylase, encoded by a CYP24A1 gene, is a crucial enzyme entailed in catabolism of vitamin D. Loss-of-function mutations of CYP24A1 result in hypercalcemia, not adequately concomitant high levels of 1,25(OH)2D and low PTH levels. The variety of clinical manifestations depends on age – mutations can lead to fatal infantile hypercalcemia among neonates (typically precipitated by supplementation of vitamin D), whereas adults’ symptoms are usually mil...