hrp0097p2-72 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Congenital hyperinsulinism; challenges in management and diagnosis. An experience from LMIC

Rani Rai Versha , Awais Rimsha , Rathore Heeranand , Khoso Zubair , Noor Ibrahim Mohsina , Riaz Maira

Congenital hyperinsulinism is a rare genetic cause of symptomatic hypoglycemia carrying risk of significant morbidity and mortality if left undiagnosed and untreated. It is characterized by unregulated insulin secretion from pancreatic beta cells leading to hypoglycemia. It can be broadly classified into diffuse and focal types. Till date, at least nine different types of genes are identified among which ABCC8 and KCNJ11 are the most common genetic mutations. Genetic mutation ...

hrp0097p2-232 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diabetes insipidus in pediatric onset langerhans cell histiocytosis with excellent response to treatment.

Rani Rai Versha , Awais Rimsha , Rathore Heeranand , Noor Ibrahim Mohsina , Riaz Maira

Introduction: Langerhans cell histiocytosis is a neoplastic disorder characterized by proliferation of myeloid dendritic cells. It can involve single system or multisystem with commonly involving sites including skin, bone, central nervous system, lung, hematopoietic system, liver and spleen. It also involves the endocrine system with diabetes insipidus a common presentation in 15-50% cases. It has a broad spectrum of presentation ranging from a relatively ben...