Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p30 | Bone, Growth Plate and Mineral Metabolism | IMPE2023

Neonatal Severe Hyperparathyroidism (NSHPT): A single centre experience from Western India

Mehta Amrita , Rao Chandrashekhar Sudha , Keshwani Rachna , Walia Shagun , Joshi Rajesh

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 ...

impe0096ep9 | Bone, Growth Plate and Mineral Metabolism | IMPE2023

Hereditary Hypomagnesemia with Secondary Hypocalcemia: A Case series from India

Walia Shagun , Rao Sudha , Sharma Shreya , Agarwal Poorvi , Karia Prachi , Keshwani Rachna , Mehta Amrita , Joshi Rajesh

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...

impe0096p73 | Fetal, Neonatal Endocrinology and Metabolism | IMPE2023

Long-Acting Octreotide analogue (LAR) Treatment in Diazoxide Unresponsive Congenital Hyperinsulinism (CHI) – Short term outcome

Rao Chandrashekhar Sudha , Keshwani Rachna , Dhingra Dua Mudita , Karia Prachi , Syal Simran , DR Kavya , Mehta Amrita , Walia Shagun , Joshi Rajesh

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...