Endocrine Abstracts

Introduction: Autosomal dominant hypocalcemia (ADH) type 1 is a rare form of hypoparathyroidism, caused by heterozygous, inherited or de novo, activating mutations in the CASR. CASR is also expressed in the kidney and activating mutations lead to decreased calcium renal absorption. Activating mutations in the CasR, inhibits salt transport, leading to Bartteŕs syndrome (BS) type V which can co-exist with ADH1. Chronic myeloid leukemia (Cml) is characterized by the...