ea0014p451 | (1) | ECE2007
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<...