Endocrine Abstracts

Initial follicle growth results in a number of distinct morphological changes, such as cuboidalisation and proliferation of the granulosa cells (GC) as well as an increase in oocyte size.Cell adhesion molecules and intercellular junctions play a pivotal role in changes in cell shape. We hypothesize that change in GC shape is key, and that increased understanding of changes in cell adhesion and associated junctions will provide insight into the regulation...

In rodents and other mammals, it is well established that the production of certain TGF-β members including Gdf9 and Bmp15 by oocytes is important for follicle development to proceed. It is believed that these growth factors form part of a short loop paracrine system to regulate gene expression in neighbouring follicle cells. We propose that one aspect of this feedback loop may involve the genomic modulation of TGF-β antagonists in granulosa cells by oocyte-secreted ...

Insulinoma is a rare tumour, but is the commonest cause of hyperinsulinaemic hypoglycaemia in adults. It is characterised by symptomatic hypoglycaemia with inappropriately elevated plasma insulin and C-peptide levels. 10% of insulinomas are malignant. The coexistence of insulinoma with diabetes mellitus is extremely rare with only 20 previously reported cases. This can therefore pose a diagnostic challenge.An 83 year old man, who developed Type 2 diabete...

Marshall-Smith syndrome (MSS) is a congenital disorder affecting skeletal and neural development, due to mutations in the nuclear factor I/X (NFIX) gene. NFIX encodes a ubiquitously expressed transcription factor that regulates the expression of viral and cellular genes. To identify novel genes that are misregulated by NFIX mutations, RNA sequencing and proteomics analyses were performed on mouse embryonic fibroblast (MEF) cells derived from a repres...

Polycystic ovary syndrome (PCOS) is a multifactorial, complex endocrine disorder affecting a significant proportion of the global population. Hyperandrogenism is a key feature of PCOS patients. Aberrant secretion and/or action of gonadotropins have been implicated in PCOS, but, to date, we have only limited knowledge of how these factors may interact in the aetiology of PCOS. We hypothesised that excess androgens may cause aberrant gonadotropin activity and therefore sought to...

Background: Optimizing attendance rates in outpatient’s clinics is important to ensure good clinical care and to avoid waste of scarce medical resources. In 2016, we identified a cohort of 17 teenagers that frequently Do Not Attend (DNA) the Paediatric Diabetes Multidisciplinary Clinics, compromising patient care and reducing compliance with NICE and BPT standards. As this cohort was found to be enrolled in a cluster of 5 schools we explored the benefit of taking diabetes...

Background: The importance of vitamin D supplementation in pregnancy is well known. Hypovitaminosis D is associated with adverse maternal and foetal outcomes such as pre-eclampsia, gestational diabetes mellitus, bacterial vaginosis, increased incidence of caesarean section delivery, intra-uterine growth restriction and reduced bone and muscle mass in childhood. The recommendations for vitamin D supplementation vary widely, with NICE guidelines suggesting a daily replacement do...

Introduction: Ectopic ACTH syndrome (EAS) is a rare condition, accounting for approximately 10% of all Cushing’s syndrome (CS). We assessed the experience managing this condition in our centre.Methods: 171 patients (105 female, 66 male) with elevated plasma ACTH concentrations were identified from local IT systems at a tertiary centre (University Hospitals Birmingham NHS Foundation Trust) between 2002 and 2015. An electron...

Current treatments, including surgery, medical therapy, radiotherapy, and radionuclide therapy for neuroendocrine tumours of the pancreas (PNETs) and bronchus (BNETs) are often unsatisfactory, leading to a 5-year survival of <50% and 5%, respectively. PNETs and BNETs frequently have mutations in chromatin-remodelling genes and the protein encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, menin. Menin binds the...

Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.Patient 1 ...