Endocrine Abstracts

Background: Compound heterozygous POLE1 mutations have previously been described as a cause of IMAGe syndrome. The severity of the adrenal insufficiency (AI) at initial presentation has been a subject of ongoing debate. Case report: At 22 weeks gestation the proband’s mother was referred to paediatric endocrinology for low oestriol on antenatal quadruple testing. The pregnancy was complicated by severe growth restriction leading to emergency caesare...