ESPE Abstracts

Background: Hereditary Vitamin D-Resistant Rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) resulting in end organ resistant to 1a,25-dihydroxyvitamin D, [1,25(OH)2D]. Majority of HVDRR has Elevated 1, 25(OH)2D which is a hallmark for diagnosis of this disease. High doses of vitamin D, oral calcium and most importantly IV calcium infusion are the mode of therapy in HVDRR.A...

Background: Laron syndrome is an autosomal recessive disease caused by molecular defect in GH receptor gene. The patients have severe growth retardation and clinical features of GHD with low IGF-1, high basal GH and failed response to IGF-1 stimulation test. The only proved treatment is daily recombinant IGF-1 administration which showed improvement in linear growth.Aim: To describe the largest group of patients with lar...