Endocrine Abstracts

Background: Septo-optic dysplasia (SOD) is a rare congenital condition diagnosed in children with two or more of hypothalamo-pituitary axis dysfunction, midline brain abnormalities, and optic nerve hypoplasia. SOD has a heterogenous clinical phenotype, characterised by varying visual impairment and endocrine dysfunction. Autistic-like behaviours have also been reported in children with SOD, however the nature of these neurobehavioural impairments remain to be fully understood....

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...