Endocrine Abstracts

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Defining the molecular genetics of diabetes gives new insight into the underlying aetiology. Recent work in Type 2 diabetes has suggested that the majority of genes to date result in beta-cell dysfunction but the impact of each polymorphism is relatively modest. In contrast patients with beta-cell monogenic diabetes have beta-cell dysfunction as the result of mutation of a single gene and these allow new insights into subtypes of beta-cell dysfunction and their therapeutic res...

Andrew Hattersley, Peninsula Medical School, Plymouth, UK AbstractAndrew Hattersley qualified from Oxford in 1984. He trained in Diabetes at the Hammersmith Hospital, Oxford and Birmingham before taking up his present post as a consultant Diabetologist in Exeter in 1995.His principal area of research is the molecular genetics of diabetes with a particular emphasis on monogenic diabetes. He has ta...

Insulin is a crucial growth factor in utero as well as the key post natal determinant of blood glucose. Mutations in beta-cell genes altering insulin secretion therefore present with both altered birth weight and also hyper or hypoglycaemia. Recent advances in the genetics of neonatal diabetes and neonatal hyperinsulinism give key insights to beta-cell physiology as well as offering improved clinical management.In the genes encoding key beta-cell ...

Heterozygous mutations in the transcription factor, hepatocyte nuclear factor 1b (HNF1B), result in multisystem disease including diabetes due to beta-cell dysfunction and pancreatic hypoplasia. However, the mechanisms that underlie development of diabetes in HNF1B mutation carriers are still not fully understood due to lack of an appropriate animal model system. Human pluripotent stem cells (PSCs), which are capable of self-renewal and can differentiate into any cell type, ar...

Background: Subclinical hypothyroidism is common in pregnancy affecting about 5% of all pregnant women, and is associated with adverse pregnancy outcomes. There is a general consensus that subclinical hypothyroidism detected during pregnancy should be treated with L-thyroxine (Stagnaro-green et al. 2011, DeGroot et al. 2012). However, it is unclear whether the treatment should be limited only during the pregnancy or continued long-term. Therefo...

Understanding how pancreatic beta-cells develop during human development is essential to advance current protocols aimed at developing insulin-producing beta-cells in vitro and highlight therapeutic targets for diabetes treatment. Identifying the single-gene mutations which result in individuals developing diabetes in the first 6 months of life (a condition called neonatal diabetes) has the potential to give unique insights into the genes regulating human beta-cells w...

Background: Neonatal diabetes (ND) is a rare, mostly sporadic disorder diagnosed within the first 6 months of life that can either be transient or permanent. We report on a family of four phenotypically heterogenous subjects with ND characterized by a new heterozygous missense mutation (D212I) in exon 5 of the ABCC8 gene encoding the SUR1 subunit of the KATP channel.Patients: In each of small-for-gestational-age (SGA) female monocygous twins, ...

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...