Endocrine Abstracts

Case History: X-linked hypophosphataemia (XLH) manifests as rickets in infancy or childhood, and is caused by mutations of the phosphate-regulating neutral endopeptidase (PHEX) gene, which leads to excess production of the fibroblast growth factor-23 (FGF-23) hormone. We present a case illustrating that mutation of PHEX can also cause hypophosphataemia presenting in adulthood. The proband is a 56-year-old male, who was referred with persistent hypophosphataem...

Background: Denosumab is a monoclonal antibody against RANK ligand used for the treatment of osteoporosis. Although clinical trials demonstrate that denosumab is highly effective at reducing fragility fractures in postmenopausal osteoporosis, there have been few studies looking at real world outcomes. Our primary aim was to assess the efficacy of denosumab in practice.Methods: We retrospectively formed a database of 257 patients seen in endocrinology out...

Background: Denosumab, given 6 monthly as a subcutaneous injection, is well established as a treatment for osteoporosis. In the UK it is initiated in secondary care with most patients continuing with injections in primary care. Given concerns with hypocalcaemia and possible adverse effects on fracture risk due to abrupt cessation, robust monitoring in primary care is important. Our study compares two groups of patients on denosumab, one following a well-defined treatment pathw...

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic dominant syndrom in men with a prevalence of 1 in 2600 to 3000 individuals worldwide. NIH NF1 diagnostic criteria are driven by the most frequent manifestations of the disease (‘café au lait’ macules (CAL), neurofibromas, freckling, optic glioma, Lisch nodules and bone lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine ...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...

The medial amygdala (MeA) is crucial for sexual behavior; kisspeptin (Kiss1) also plays a role in sexual function. Kisspeptin receptor (Kiss1r) knockout mice display no sexual behavior. Recently Kiss1 and Kiss1r have been discovered in the posterodorsal subnucleus of the medial amygdala (MePD). We hypothesized that Kiss1 in the MePD may have an influence on male sexual behavior. To test this we bilaterally cannulated the MePD and infused kisspeptin-10 in male rats. This caused...

Introduction: Metformin is widely used as oral anti-hyperglycaemic agent to treat type 2 diabetes, with increasing reports of an additional, potential bone protective role.Objective: We investigated the role of AMPK in mediating the effects of metformin on the differentiation of mesenchymal stem cells (MSCs) to either osteoblasts or adipocytes.Methods: Confluent murine MSCs (C3H10T1/2) were treated with metformin (500 μM), a k...

Background: Recurrent middle ear disease may lead to poor growth or may suggest an underlying diagnosis associated with short stature. The aim of the study was to describe stature in a cohort of girls attending a paediatric ENT service.Methods: Height and weight was measured in all girls attending ENT clinics over an 8 week period (n=83). A mid-parental height (MPH) was calculated from reported parental heights. Th...

Higher short-term exercise-associated reproductive, psychological and bone health-related outcomes have been reported in women than men, although the reasons for this are poorly understood. The first, all-female transantarctic expedition provided a unique opportunity to perform an observational study examining concurrent effects of extreme exercise on pertinent hormonal axes to reproductive dysfunction and associated pathology. Body composition was measured by dual-energy xray...

Background: Both excess and insufficient glucocorticoid exposure in utero is associated with adverse fetal outcomes. Characterising the maternal hypothalamic-pituitary-adrenal (HPA) axis is challenging with large intra-individual variations in plasma and saliva. We hypothesised that 24-hour total urinary glucocorticoid (TUG) is a marker of maternal HPA axis during pregnancy. We tested associations of TUG with maternal BMI and birthweight.Methods: TUG was...