Endocrine Abstracts

Background: A polymorphism within the CYP11B2 gene, characterised by a C/T substitution at position 344, the putative binding site for steroidogenic transcription factor1, has been shown to influence aldosterone excretion rate and blood pressure in essential hypertension.Aims: Assess the effect of contrasting genotype for the SF1 site on urinary and plasma steroid production during dietary manipulation of the renin-angiotensin system and assess the press...

Background: Hypertension is common in adults with Turner Syndrome (TS) but less is known about hypertension in children with TS.Aim: To determine the frequency of hypertension in a contemporary paediatric TS cohort and to assess its association with clinical characteristics.Patients and methods: Preliminary analysis of 22 girls with TS attending a designated TS clinic at RHC, Glasgow, with at least 2 blood pressure measurements in ...

Neonatal Diabetes: A Challenging Case Scenario and Therapeutic Considerations Neonatal diabetes is a rare form of diabetes mellitus that presents in the first six months of life. This abstract highlights a challenging case scenario of neonatal diabetes and provides insights into the diagnostic approach, therapeutic considerations, and long-term management strategies. The case involves a term male neonate who presented with severe hyperglycemia, polyuria, and failure to thrive....

G protein-coupled receptors (GPCRs) are critical for signal transduction within neuroendocrine signalling pathways, and genetic mutations in G protein-coupled GPCRs underlie numerous diseases. Inactivating GPCR mutations can impede ligand interactions or signal transduction, or can result in misfolding of nascent receptor proteins and subsequent retention in the endoplasmic reticulum (ER) and thus failure to traffic to the cell surface. Examination of the functionality and cel...

Background: Low energy availability (LEA) in female athletes can result in HPG axis suppression. Basic military training (BMT) is physically arduous and associated with amenorrhoea and low-trauma fractures. We hypothesised that women undergoing BMT would demonstrate evidence of LEA and suppressed HPG function.Design: Prospective study of 61 women undertaking 11-month BMT. Subjects acted as their own controls at baseline (all measures). Body composition m...

Background: Immune related adverse events (iRAEs) of the endocrine system are commonly recognised in Checkpoint Inhibitor Therapy treatment with current research suggesting clinically significant endocrinopathies occur in 10%. As the use of these drugs continues to rise, so too does the importance of routine endocrine monitoring in order to avoid potentially life-threatening adverse-events.Aims: To establish the frequency, severity, management and outcom...

Background: Vitamin B12 (B12) insufficiency is common in pregnancy and independently predicts insulin resistance (IR) in the offspring. B12 is an important key nutrient for epigenetic programming through regulating DNA methylation. Such B12 DNA methylation may influence leptin, a strong candidate for methylation, which could impact both insulin resistance (IR) and associated neonatal metabolic risk. Therefore, we hypothesize that leptin can be programmed by maternal B12 which ...

Studies in India (vegetarian population) show that vitamin B12 insufficiency is common in pregnancy and independently predict adiposity and insulin resistance in the offspring. Epigenetic programming is postulated as, along with folic acid, B12 is crucial for DNA methylation. Therefore, we investigated whether maternal B12 levels in a non-vegetarian UK population predict metabolic risk of the offspring.Paired maternal venous and cord blood samples (n...

Background: 5-Cytosine methylation of DNA is a means of encoding epigenetic information. In the testis, the generation of de novo methylation is conducted by the enzymes DNMT3a and 3b and the co-enzyme DNMT3L. Epigenetic marks made to the DNA of germ cells are important as a potential means of trans-generational carriage of environmental information. In fetal life, germ cell demethylation and remethylation are important physiological events and these overlap with key ...

Associations of Insulin-like growth factor-II with cardiovascular risk have been inadequately studied. We studied longitudinal associations of IGF-II with cardiovascular risk factors in people with type 2 diabetes. Subjects and methods: 462 type-2 diabetes patients aged 26 to 86 years from the Salford Diabetes cohort were analysed. Longitudinal clinical information was extracted (years 2002–2009) from an integrated database of primary care and hospital data. IGF-II was me...