ea0044oc1.1 | Early Career Oral Communications | SFEBES2016
Prasad Rathi
, Maharaj Avinaash
, Meimaridou Eirini
, VanVeldhoven Paul
, Buonocore Federica
, Bergada Ignacio
, Barbagelata Eliana
, Cassinelli Hamilton
, Das Urmi
, Krone Ruth
, Saleem Moin
, Hacihamdioglu Bulent
, Sari Erkan
, Storr Helen
, Achermann John
, Guasti Leonardo
, Braslavsky Debora
, Guran Tulay
, Ram Nanik
, Metherell Lou
Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis rendering their prognosis uncertain. We investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome....