Endocrine Abstracts

Introduction: 3-M syndrome is associated with mutations in CUL7, OBSL1 and CCDC8 with the three proteins interacting within a novel growth pathway. The impact of this pathway on cellular growth has not been fully defined. We have shown that i) GH and IGF1 signalling are altered; ii) IGF2 expression is reduced and iii) expression of insulin receptor isoforms are altered in 3-M fibroblasts.Aim: To characterise the activa...

The pathogenesis of gonadotrophin secreting pituitary tumours (gonadotrophinomas) remains poorly understood. Bone morphogenetic proteins (BMPs) are important for the control of cell proliferation and differentiation and BMP2 is essential for commitment of undifferentiated pituitary cells to the gonadotroph cell lineage. In addition, BMPs have been implicated in tumourigenesis in a variety of tissues, associated with up-regulated expression of Id (Inhibitors of differentiation)...

Introduction: Diabetes is a chronic condition causing morbidity and mortality globally, with a growing economic burden on healthcare systems. In the UK, 1 in 14 people have diabetes, with type 2 accounting for 90% of cases (1). Complications from poorly controlled diabetes are associated with increased socioeconomic costs and a reduced quality of life. Research has shown education and self-management are crucial in helping diabetic patients achieve metabolic control (1). Smart...

Introduction: There is increasing emphasis on stringent glycaemic control (HbA1c <48 mmol/mol) within the first year of diagnosis for all types of diabetes, to preserve metabolic memory and reduce future risk of sub-optimal diabetes outcomes. Retrospective data collected on two previous annual cohorts of children and young people (CYP) with diabetes revealed only 9% achieved the HbA1c < 48 mmol/mol target at 12 months post diagnosis despite initial HbA1c improvement un...

GPR101 is an orphan G-protein coupled receptor with unknown ligand. In 2014, an international study clearly pointed to a strong association between this receptor and the X-linked acrogigantism (X-LAG) syndrome, which begins in childhood and causes the “tallest giants”. The children (carriers of the GPR101 duplication on the X chromosome) grow abnormally even before they are one year old, secrete phenomenal quantities of growth hormone, and develop pituitary adenomas ...

Introduction: We describe two patients admitted to our institution with severe hypercalcaemia, resistant to conventional treatment, requiring haemofiltration. Patient 1 was admitted to hospital with profound hypercalcaemia (5.8 mmol/L) secondary to primary hyperparathyroidism (PTH >263 Pmol/L). The hypercalcaemia had been discovered on a surgical admission 3 months previously and was being managed with 0.9% normal saline and pamidronate infusions at an outside hospital. On...

Introduction: 3-M syndrome is an autosomal recessive disorder characterised by pre- and postnatal growth restriction, characteristic facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding Cullin 7 (a component of the ubiquitination system) and Obscurin like-1 (a cytoskeletal protein). The mechanisms through which mutations in these genes impair growth are uncl...

Ubiquitination (Ub) is the process that controls the level and activity of cellular proteins. Mono-ubiquitination of a protein alters its function, while poly-ubiquitination targets a protein for degradation (as the ‘kiss of death’). Alterations in the Ub system are associated with a wide range of disease, e.g. cancer, neurological diseases and viral infection.Disorders of growth where the phenotype is primarily short stature are usually caused...

3-M syndrome is an autosomal recessive disorder characterised by severe pre- and post-natal growth failure, a characteristic facial appearance (triangular shaped face, fleshy tipped nose) and radiological features (slender long bones and tall vertebrae). 3-M syndrome is known to be caused by mutations throughout the Cullin 7 gene, identified in a range of ethnic groups including Brazilian, European, Moroccan, Yakutskian and Indian.We have now identified ...

Introduction: We present the outcome for the first 21 patients undergoing neuronavigation–guided, endoscopic transphenoidal surgery for pituitary dependent Cushing’s disease in our centre since August 2001. All operations were consecutive, and undertaken by the same neurosurgeon and endoscopic nasal surgeon.Methods: Records are available for 20 cases. Pre and post operative management of cases was led by the endocrine team with standard assessm...