Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcemia (FHH) is an autosomal-dominant genetic disease caused by an inactivating mutation in the gene encoding the calcium sensing receptor (CaSR). The loss of function leads to increased circulating level of PTH and subsequent hypercalcemia.Case report: 20-year-old male patient referred to our center with hypercalcemia which was found after the syncope. His serum calcium level was 11.7 mg/dl and the phosphorus ...

GAPO syndrome (OMIM 230740) is a rare, multiple congenital anomalies syndrome characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations. Syndrome caused by anthrax toxin receptor 1 (ANTXR1) gene (NM_032208.2) mutation leading to deficiency of an enzyme involved in the metabolism and breakdown of extracellular matrix (ECM). Disease show parental consanguinity, autosomal recessive inheritance and since first description in 1947 a total of 38 patien...