Endocrine Abstracts

Objective: To determine whether there is a seasonal variation in bone mineral density (BMD) related to exposure to sunlight.Design: A single-centre retrospective analysis of BMD measurements.Participants: Of 10 971 patients who had undergone bone densitometry in the period 2000–2007. 7513 were female and 3458 male.Results: Anonymised data on BMD of lumbar spine was gathered from existing hospital databas...

Objective: The clinical presentation of primary hyperparathyroidism (PHPT) has changed dramatically over the last three decades. Previous epidemiological estimations of PHPT are mainly derived from highly selected populations. This paper systematically evaluates the prevalence and incidence of PHPT in Tayside, Scotland, using a real-world unselected population base.Methods: All Tayside residents with an increased serum calcium concentration (>2.55 mm...

Introduction: Children with chronic renal failure may grow poorly and have altered bone metabolism and body composition. Post-renal transplant (Tx), improvement in these parameters may be hindered due to glucocorticoid exposure.Aims & methods: To study changes in these parameters after Tx, anthropometry, bone mineral content (BMC) at total body (TB) and lumber spine (LS), lean mass (LM) and fat mass (FM) were analysed by DXA in 15 children (median ag...

Gut hormones are gastro-entero-pancreatic hormones released during the normal physiological response to feeding/fasting. Adequate nutrient intake and normal gastrointestinal function are critical to bone health, which can be under constant repair and remodelling. Gut hormones may integrate a connection between food intake and bone turnover.We studied the effects of five gut hormones, glucose-dependent insulinotropic polypeptide (GIP), glucagon-like pepti...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder of mineral metabolism that is characterized by lifelong elevation of serum calcium concentrations associated with inappropriately low urinary calcium excretion (calcium clearance:creatinine clearance <0.01). Three separate FHH loci have been identified (FHH1-3). Loss-of-function mutations of the calcium-sensing receptor (CaSR) gene located on 3q21.1, which account for the majority of FHH c...

We are investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) to establish models for hereditary bone disorders such as osteoporosis, osteoarthritis and skeletal dysplasias. We report on one such mouse model designated Longpockets (Lpk). Mice were kept in accordance with national welfare guidelines and project license restrictions. Lpk/+ mice are viable and fertile, present with short humeri by two weeks of birth and have a...

To identify genes causing hypercalciuria, we screened male offspring of C57BL/6J male mice mutagenised by N-ethyl-N-nitrosourea (ENU) for this abnormality. Mice were kept in accordance with UK Home Office welfare guidelines and project licence restrictions. Metabolic cage studies were performed to collect 24-hour urine samples, and this revealed one mouse with hypercalciuria (Hcalc1). Inheritance testing demonstrated that Hcalc1 was inherited as an autosomal domi...

The actions of SOCS2 on GH and IGF-1 signalling in growth plate chondrocytes have yet to be reported. During chronic paediatric inflammatory diseases retarded growth is seen in association with increased inflammatory cytokine levels, which is an effect that may involve SOCS2. The primary aim of this study was to investigate STAT signalling in chondrocytes in response to GH, IGF-1 and IL-1β. We also investigated the temporal expression of SOCS2 in response to GH and IGF-1 ...

Adiponectin, the most abundant peptide hormone secreted from adipose tissue, has been negatively correlated with obesity and can induce varying responses on bone. There are significant discrepancies in the published data, showing increased, decreased or no effects on bone turnover.We investigated the effects of adiponectin on the human osteosarcoma cell line Saos-2. After culture with varying concentrations of adiponectin (10–100 nM), supernatants w...

Objectives: To assess bone mineral density (BMD) and body composition in adults with congenital adrenal hyperplasia (CAH).Setting: Endocrine clinics in seventeen centres throughout the UK participating in CaHASE, a Society for Endocrinology project.Study design and subjects: Cross-sectional survey of 203 adults with CAH (65 men, 138 women: median age 33 (range 18–70) years). Hundred and sixty six patients were classified as cl...

Background: Adult growth hormone deficient (AGHD) is associated with reduced bone turnover and reduced bone mineral density (BMD): factors improved by growth hormone replacement (GHR). Obesity is associated with reduced bone turnover but increased BMD. We investigated the impact of body mass index on parathyroid hormone (PTH), phospho-calcium metabolism and bone turnover in AGHD patients before and after GHR.Study design: Of 31 AGHD patients (15 obese pa...

Osteoblasts and adipocytes are derived from mesenchymal stem cells (MSC), although the mechanisms involved are not fully understood. Our previous findings showed that MSCs express functional adenosine receptors (ARs) and that adenosine stimulates osteoblastogenesis. Here we describe changes in AR expression as MSCs differentiate into osteoblasts and adipocytes, and provide evidence that ARs are involved in these differentiation pathways.Rat MSCs were dif...

We present a rare case of hypercalcaemia caused by a parathyroid carcinoma.An asymptomatic 74 year old gentleman was referred with slightly raised alkaline phosphatase and corrected serum calcium the results of which are shown below:Serum Calcium 3.02 mmol/l, Albumin 41 g/l, PTH 18.7 pmol/l, Urine Calcium 10.6 mmol/24 h, TSH 6.3 Mu/l, FT4 12.3 pmol/l, FT3 5.1 pmol/l, TPO antibody >5000 IU/ml, ALP 142 iu/l.<p class="abstext"...

Glycogen storage diseases (GSD) are autosomal recessive inborn errors of carbohydrate metabolism. With current dietary therapy, life expectancy in patients with GSD has improved considerably and almost all children reach adulthood. Notwithstanding intensive therapy, patients with GSD have an increased risk of osteoporosis. We followed 20 patients aged 22–62 (mean age of 37) years with GSD type I, III and IX, for up to 5 years with serial measurements of bone turnover mark...

Introduction: Osteogenesis imperfecta (OI) is classified on the basis of molecular genetics, mode of inheritance, clinical and radiological findings. The genes implicated are either COL1A1 or COL1A2. We report a case of a novel mutation of OI in the COL1A2 gene.Case: A 24-year-old teacher with type 1 Diabetes Mellitus, presented to our Endocrine Clinic with recurrent fractures since childhood. At 7 months old, she fractured her left leg. At...

Introduction: Hypercalcaemia during pregnancy poses a risk to both the mother and foetus and can present a complex management issue. Although hypercalcaemia from any cause can occur during pregnancy, primary hyperparathyroidism is the most common cause but other rarer cause such as familial hypocalciuric hypercalcaemia (FHH) should be ruled out. Although usually posing no risk to the mother, infants of mothers with the disease are at risk for neonatal hypocalcaemia, and seizur...

Chronic pancreatitis (CP) may lead to deficiency of fat soluble vitamins such as vitamin D; little is known of the extent of this in chronic pancreatitics.In order to assess the extent and severity of vitamin D deficiency in CP we examined the notes of 111 patients with CP. In addition to clinical information and calcium, vitamin D and PTH levels, exocrine function was evaluated using the PABA test to obtain a pancreatic excretion index (PEI: normal &#62...

Objectives: To compare the diabetic (DM) (n=124) and non diabetic (nonDM) (n=63) patients on haemodialysis (HD) in terms of renal bone disease (RBD) control.Methods: Retrospective case-note review of 187 HD patients. The National Kidney Foundation guidelines for chronic kidney disease stage 5 (CKD-5) were used, with target levels for parathormone (PTH) 16.5–33 pmol/l, calcium 2.1–2.35 mmols/l and phosphate 1.78 mmols/l.<p clas...

Objective: To determine the incidence of osteopaenia and osteoporosis in primary hyperparathyroidism.Methods: Retrospective review of 80 patients with primary hyperparathyroidism; Bone densitometry of the femoral neck, lumbar spine and distal ulna was assessed by dual energy X-ray absorptiometry (DEXA) at the time of diagnosis.Results: The median age at diagnosis was 68; The male: female ratio was 1:3; osteoporosis was present in 2...

Brown tumour is a fibrous tissue mass containing hemosiderin-pigmented macrophages/ multinucleated giant cells, replacing/expanding part of bone in primary hyperparathyroidism. We present a case with brown tumour who was treated as simple bone cyst.A 22-year-old lady presented to rheumatology with pain in arms and legs. Investigations revealed severe vitamin D/B12/folate/iron deficiency with positive IgA. Gliadin antibodies and duodenal biopsy confirmed ...

AMP-activated protein kinase (AMPK) acts as a sensor and regulator of cellular energy homeostasis. Once activated, AMPK influences a number of responses including inhibition of anabolic pathways and the switching-on of catabolic pathways. Regulation of AMPK, which responds to an increase in the AMP/ATP ratio, could have an important role in chondrocyte function particularly in response to hormones and to stress such as occurs in osteoarthritis. Therefore, we sought to investig...