Endocrine Abstracts

Defective signalling by insulin-like molecules is not only a fundamental characteristic of diabetes, but is also associated with the majority of human tumours, where signalling is typically hyperactivated. Although both these diseases have a significant genetic component, we are still some distance from identifying all the genes and cellular mechanisms affected.We and other groups use the powerful genetics of the fruit fly, Drosophila melanogaster...

Introduction: AMH is produced by the sertoli cells in the testes and is responsible for the regression of the Mullerian structures in the male fetus. It is also produced by the granulosa cells of the ovaries in females to a lesser degree. Serum AMH measurements may be important for detecting testicular tissue and monitoring ovarian activity. The objective of this study was to establish a cross-sectional reference range for AMH in UK children.Method: Seru...

Macroprolactin is a high molecular mass prolactin isoform found in some normal individuals. The most common form of macroprolactin arises from binding of prolactin to IgG ('big-big' prolactin), with a molecular mass 150-170 kD. A further prolactin isoform of intermediate size ('big' prolactin, 50-60 kD), has also been described but the nature and significance of this form is less clearly understood.We have previously described the effects of pregnancy in...

Stem cell therapy offers a far-sighted opportunity to cure Type 1 diabetes. To achieve this ambitious goal, an in depth understanding of how human beta cells normally develop is critical, as it provides the perfect model for the differentiation of stem cells down normal safe developmental pathways. Our data provide a framework of human pancreas development and islet formation, highlighting subtle differences from the parallel process in mouse. Key genes have been identified th...

Oestrogens act via oestrogen receptors (ER) that are expressed in a wide range of tissues including the vasculature, bone and gonads. Two ER genes known as ERalpha and ERbeta have been identified. In the human splice variants of ERbeta have been identified. ERs form both homodimers and heterodimers upon ligand binding. The aim of the present experiments was to study the functional activity of ERbeta1 (wild type) and ERbeta variant (ERbeta2) in single and double transfection as...

Macroprolactin, a high molecular mass complex of prolactin and an IgG antibody is confined to the vasculature and exhibits limited bioactivity in vivo. Using a panel of sera obtained from 10 subjects whose hyperprolactinaemia was due entirely to macroprolactin this study aims to compare the level of detection of macroprolactin by 9 of the most commonly used prolactin immunoassays.The study involved 24 clinical laboratories employing the following 9 anal...

The global prevalence of obesity continues to rise, creating a growing need for new effective medicines. Selective targeting of visceral obesity (fat around the internal organs) would be particularly advantageous because it carries a greater risk for cardiometabolic diseases. The ectonucleotide pyrophosphatase (ENPP) enzyme family participates in several pathological conditions including diabetes (ENPP1, and ENPP2, also known as autotaxin) and vascular dysfunction (ENPP3-4). O...

Introduction: Mutations in GNAS, affecting the alpha subunit of heterotrimeric G proteins, are implicated in several endocrinopathies. We report a patient with features of both receptor activation and inactivation in association with a novel de novo heterozygous somatic mutation.Case report: Asymptomatic hyponatraemia (Na 117-123) was identified in a male neonate, and treated with sodium supplementation and fludrocortisone. Biochemical data were...

Section 1: Case history: A sixty-three-year-old Caucasian male presented with a six-week history of lethargy, emotional lability, polydipsia, polyuria, increased appetite and weight gain. He also reported changes in his facial features and widening of the gaps between his teeth. He has a background of hypertension, obstructive sleep apnoea and benign prostatic hyperplasia. On examination, the patient appeared plethoric, had coarsened facial features, mild prognathism and evide...

Introduction: Increased prevalence of diabetes is found in major psychosis, and poorer outcomes occur when both diagnoses co-exist. The aim of this study was to describe the association between total and cardiovascular mortality in people with both schizophrenia and diabetes, compared to diabetes alone.Materials and methods: Data was linked from the Glasgow Psychosis Clinical Information System (PsyCIS), the Scottish national diabetes database (SCI-Diabe...