Endocrine Abstracts

A 69 year old male was referred with a 60 year history of recurrent hypoglycaemia. Over the previous 12 months he had several episodes of severe hypoglycaemia, which necessitated emergency treatment from paramedics. He had been diagnosed with a hypoglycaemic disorder at the age of 9 years, but no underlying cause had been identified. He had no other previous history of note, though he was macrosomic at birth with a birth weight of approximately 5.9 kg. His mother was diagnosed...

Background: Mutations in the insulin receptor (INSR) gene are rare and cause a spectrum of severe insulin resistance syndromes including Donohue syndrome, Rabson Mendenhall syndrome, and Type A Insulin Resistance Syndrome (IRS). We describe a young female with a heterozygous INSR mutation, who presented with antibody positive diabetes mellitus (DM) and subsequently developed features of Type A IRS.Case Report: A 12 year old Jamaican gir...