Endocrine Abstracts

Background: Neanderthals split from an ancestral human population ~500,000 years ago and lived in Eurasia until 40,000 years ago. Early modern humans emerged in Africa ~350,000 years ago migrating into Eurasia 50,000 years ago. Interbreeding occurred between early modern humans and Neanderthals leading to the introduction of Neanderthal DNA into the early human population, a process termed introgression. In modern Eurasian populations around 2-4% of DNA is of Neanderthal origi...

Background: Recombinant human growth hormone (r-hGH) is the primary therapeutic agent for disorders of growth including growth hormone deficiency (GHD) and Turner syndrome (TS). There is a high cost associated with treatment and existing methods to predict response (and hence alter management) can only account for 40–60% of the variance.Methods: GHD (n=71) and TS patients (n=43) were recruited as part of a study (PREDICT) on the lo...

Background: Cardiometabolic (CM) risk is linked to being small for gestational age (SGA, birthweight <-2SDS). Suboptimal fetal growth alone may be linked with greater CM risk without resulting in SGA. Therefore, we focused on CM risk in children born following pregnancies at higher risk for growth restriction, irrespective of birthweight.Aims: 1. To identify associations between fetal and childhood weight trajectories and CM risk markers. 2. To defin...

Background/objectives: Kabuki Syndrome 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function of histone 3 lysine 4 mono-methyltransferase KMT2D. In addition, to neurodevelopmental features, some Kabuki Syndrome patients also exhibit endocrine-related phenotypes, such as hypoglycaemia. KMT2D is involved in global gene regulation, therefore, it is important to have a systems-based approach to understand pathomechanisms of KS1.<p class="abstext"...

Background: Using small for gestational age (SGA) as a marker for fetal growth restriction (FGR), studies link an adverse intrauterine environment to cardiometabolic risk markers in childhood. Focusing on 3–6 year old children, where the majority were born following pregnancies at greater risk of suboptimal fetal growth (SFG) but only a minority were born SGA, cardiometabolic risk markers were measured and blood samples collected for metabolomic analysis....

Background: Cardiometabolic risk is linked to being small for gestational age (SGA, birthweight <-2SDS). Using data from the Avon Longitudinal Study of Parents and Children (ALSPAC), an ‘omic signature in SGA catch-up children predicts pre-hypertension in adolescence. Suboptimal fetal growth (SFG) alone may be linked with greater cardiometabolic risk. Therefore, we focused on cardiometabolic risk in children born following pregnancies at higher risk f...