Searchable abstracts of presentations at key conferences in endocrinology

ea0014p451 | (1) | ECE2007

Familial hypocalciuric hypercalcemia: mutation in the calcium sensing receptor gene

Paiva Sandra , Ribeiro Cristina , Barros Luisa , Gomes Leonor , Melo Miguel , Guimarães Joana , Venâncio Margarida , Saraiva Jorge , Carvalheiro Manuela

Familial hypocalciuria hypercalcemia (FHH) is an autossomal dominant condition caused by mutations in the calcium sensing receptor gene. It is characterized by moderate hypercalcemia, with normal or slightly elevated PTH levels and hypocalciuria secondary to the increased calcium reabsorption at the distal tubule level.We present a case report of a 16 year old patient, who was referred to our department at the age of 14 because of obesity (BMI: 36.9 K/m<...