ESPE Abstracts

Introduction: DEND syndrome is severe form of neonatal diabetes mellitus characterized by triad of developmental delay, epilepsy and neonatal diabetes. It is caused by mutations in the K-ATP channel encoded by KCNJ11 or SUR1 sulphonyl urea receptor 1 encoded by ABCC8 gene. Its Incidence is <1/1000,000 and until now very few cases have been reported worldwide. There is intermediate DEND syndrome (iDEND), this is less severe condition in which there is neonat...

Introduction: CAH (congenital adrenal hyperplasia) is the most common cause of ambiguous genitalia among girls. 21 Hydroxylase deficiency is the most common type of CAH. If the CAH girls have early intervention and they have started early treatment then they will achieve normal puberty. IF CAH girls have started treatment later in the life then they will present either with precocious puberty or delayed puberty.Methodology:</stro...