Endocrine Abstracts

The ubiquitin-proteasome cascade has been described as a critical factor in adipocyte biology, insulin signaling and obesity, but the function of Nedd8, the ubiquitin-like protein with the closest homology to ubiquitin, remains unknown. Using 3T3-L1 preadipocyte cells, we found that MLN-4924, a specific neddylation inhibitor, blocks adipocyte differentiation. Screening for signaling and transcriptional factors driving adipogenesis, we found that neddylation blockade inhibits t...

Calcium and phosphorus represent the main building material for bone stiffness. The supplier of these bone minerals is the hormone calcitriol, which originates from vitamin D, itself made by sunshine in human skin. Requirement for bone mineral supply is highest during phases of rapid growth, such as in the foetus, infant and pubertal child, making them particularly vulnerable.Deprivation of calcium, whether through low dietary calcium intake and/or low v...

Abstract unavailable....

Osteoporosis in children is not just BMD and bisphosphonates. Children are unique in their ability to grow and repair bone tissue. Diagnostics, management and the spectrum of osteoporotic conditions encountered in children are different from adults. Children can have primary osteoporosis which are rare diseases like osteogenesis imperfecta (OI), and secondary osteoporosis resulting from chronic conditions or their treatment. Disorders of the bone minerals calcium and phosphate...

Background: The extent of biochemical abnormalities in household members of children presenting with symptomatic vitamin D deficiency remains unknown. Characterising risk groups who warrant 25 hydroxyvitamin D (25OHD) testing will help reduce the rising frequency of unnecessary testing in the UK.Aims: Investigate the prevalence of vitamin D deficiency and biochemical osteomalacia in the mothers and siblings of children presenting with symptomatic vitamin...

Introduction: Pharmacological treatments are still not ideal in ACTH-microadenomas and transnasal-trans-sphenoidal surgery (TSS) is first choice in the treatment of Cushing’s disease (CD). The question is how can a nearly 100% remission rate be achieved with minimally invasive diagnostic testing and TSS. In the discussion of the main lecture from an expert from the USA in ECE13, it became clear that in many European centres, like ours, the procedures are less invasive. Th...

Brown tumours are benign osteolytic lesions of bone caused by high levels of serum parathyroid hormone (PTH). They are now rarely seen as a feature of primary hyperparathyroidism. We report two cases of brown tumour in adolescent girls caused by secondary hyperparathyroidism due to severe vitamin D and dietary calcium deficiency.Case 1: 14.5-year-old South Asian girl referred with a 1 year history of right hip pain. She had presented to the orthopaedic t...

Introduction: Arthrogryposis multiplex congenita is a rare congenital disorder characterised by multiple joint contractures. The association with hypopituitarism has only been reported once before. We report two further children with multiple pituitary hormone deficiencies (MPHD) and arthrogryposis.Case reports: Case 1: this 12-year-old girl was born to consanguineous parents; a previously affected sibling had died. She was dysmorphic with multiple joint...

Introduction: ‘At risk’ groups for vitamin D deficiency have long been identified, including the chronically ill. According to guidelines published by the European Society of Endocrinology (ESPE, 2002), the American Academy of Paediatrics (AAP, 2008) and the Endocrine Society (ENDO, 2011), vitamin D levels should be measured in chronically ill or at risk patients. We aimed to test the current knowledge of these guidelines amongst consultants in a large tertiary hospi...

Introduction and aims: Thionamide may have immunosuppressive mechanisms. However, data suggest restoration of the immunological regulation as patients return to the euthyroid state may better explain remission, How successfully patients are kept euthyroid during a course of antithyroid drug therapy for Graves’ hyperthyroidism, and whether not continuously maintaining normal thyroid function is associated with a worse prognosis, is not known.Aims: 1)...