Endocrine Abstracts

Introduction: Silver–Russell Syndrome (SRS) is a heterogeneous condition characterised by low birth weight, postnatal growth failure and clinical features including relative macrocephaly, limb or facial asymmetry and a triangular facies with broad forehead, pointed chin and downturned mouth. SRS been linked to a number of genetic abnormalities including maternal uniparental disomy (UPD), of chromosome 7 and hypomethylation of the IGF2-H19 imprinted region on chromosome 11...

Introduction: The Autoimmune Polyendocrinopathy Syndromes (APS) comprise 4 clinical subtypes (1–4), APS type 1 is an autosomal recessive disorder caused by mutations in the AIRE (Autoimmune Regulator) gene. It should include at least 2 of the following 3 major criteria: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT) and adrenal insufficiency (AI) although 50% of patients develop all 3 features, usually before the age of 20 years. In addition, there are ...

Background: Russell–Silver syndrome (RSS) is a heterogeneous condition characterised by pre- and post-natal growth retardation in association with variable dysmorphic features including triangular facies and body asymmetry. The condition has previously been linked to 2 genetic abnormalities: aberrant methylation at the 11p15.5 locus in 30–40% and maternal uniparental disomy (UPD) of chromosome 7 in 10% of cases. Up to 50% of children currently have no identified (epi...