IMPE Abstracts

Introduction: NSHPT is a rare, autosomal recessive inherited, disorder of CASR gene presenting as severe hypercalcemia early in life. Diagnosis requires a high index of suspicion. Intensive medical management with calcium lowering drugs should be tried prior to parathyroidectomy.Aims: To study the clinical-laboratory-genetic profile, management and short-term outcome of children with NSHPT diagnosed at our center in the ...

Introduction: Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder of magnesium homeostasis that presents with refractory seizures in infancy.Objectives: This study aims to characterize the demographic profile, clinico-laboratory characteristics and management of children diagnosed as familial hypomagnesemia over last 10years.Methods: Ret...

Congenital Hyperinsulinism (CHI), a heterogenous complex disorder, is the commonest cause of refractory hypoglycaemia in infants. The treatment of diazoxide-unresponsive CHI is a major challenge in clinical practice.Objective: To study the clinical profile, molecular characterisation, response to long acting octreotide analogue (LAR) therapy and short term outcome in diazoxide unresponsive CHI presenting to our Centre.<p class="abste...