Endocrine Abstracts

A 52-years man was admitted following a Road Traffic Accident.He was a known smoker but usually fit and well. During the road traffic accident he sustained fracture of all four limbs, clavicles, facial bones as well as multiple rib fractures.Following initial stabilisation in ITU he underwent multiple orthopaedic surgeries for his bony fractures over the next 2–3 months.He was then noticed to have elevat...

Objective: To highlight that an occasional case of parathyroidectomy may be followed by protracted symptomatic hypocalcaemia requiring calcium infusion and high doses of vitamin D.Case: We report a 61 years male who presented with hypercalcaemia and brown tumour. He was diagnosed as a case of primary hyperparathyroidism. He had normal FBC, U&Es, LFT, TFT and negative Endomysial antibody. Just 4 days post-parathyroidectomy he was admitted with symptom...

Objective: Highlight hypertrophic pulmonary osteoarthropathy (HPOA) and partial HPOA as a cause for raised bony alkaline phosphatase (ALP).Case: We report the case of a 59-year-old lady who was referred to the endocrine clinic with 2 years history of bilateral leg pain and raised bony ALP. She denied any other symptoms. She had no past medical history. She was not on any regular medications and she has never smoked. Apart from mild tenderness over both l...

Vitamin D is not only essential for maternal health but insufficient levels during pregnancy and breast feeding can lead to infantile rickets or osteomalacia in their offspring. NICE recommends that vitamin D supplements should only be offered to pregnant women with dark skin, those who usually cover their skin, vegans and women between the ages of 19–24. Although it is widely known that these women are at high risk of vitamin D deficiency, the incidence of vitamin D insu...

Investigations of skeletal dysplasias which are often inherited have yielded important insights in the molecular mechanisms of bone development, osteoporosis and osteoarthritis. However, these studies have been hampered by the lack of available patients and affected families. To overcome this limitation, we have investigated mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for hereditary musculoskeletal disorders. Mice were kept in accordance wi...

Introduction: Endocrinopathies can cause secondary osteoporosis and little is known of the extent of this condition in young adults.Methods: In order to assess the bone health in endocrinopathies in young adults, a retrospective analysis of 25 transitional clinic patients who underwent dual energy X-ray absorptiometry (DEXA scan) was made using case notes and the hospital database.Results: Twenty-three patients were male and the me...

In young patients osteoporosis is associated with endocrine and inflammatory conditions. Early identification of osteoporosis may reduce later morbidity.We aimed to establish the aetiology of low bone mineral density (LBMD) in young patients at our centre. We identified risk factors and impact of gender on BMD in a young at-risk cohort.All patients between 20 and 55 years old who underwent DXA scan between 2004 and 2009 were identi...

Primary hyperparathyroidism (1 in 1000) (1) and occult vitamin D deficiency (14% of the healthy adult population) are relatively common disorders (2). Hypercalciuria, renal tract calcification and reduced bone mineral density (BMD) are recognised complications of primary hyperparathyroidism. We report details of the prevalence of vitamin D deficiency and complications in patients with primary hyperparathyroidism.It is a retrospective study of 44 patients...

Background: Chronic obstructive pulmonary disease (COPD) is defined as a chronic, slowly progressive disease characterized by airflow obstruction that dose not markedly change over several months. Clinical observations in patients with COPD have noticed that those patients have muscular pain accompanied with loss in the bone mineral density which can be assured by Bone Densitometry and some laboratory tests.Aim of the study: To study the use of Bone Dens...

A 67-year male presented to his GP with polydypsia, ployuria and bone pains. Routine blood tests showed hypercalcemia (corrected calcium 2.77 mmol/l). Patient was otherwise well. He had a history of ethanol abuse, hypertension and gout.Medications: Allopurinol, ramipril simvastatin and co-dydramol. Repeat blood tests after 4 weeks show a rising calcium of 3.24 mmol/l with intact PTH 33.6 pmol/l (<6.4). He was referred to our endocrinology department ...

Vitamin D insufficiency is common in the Irish population. Patients with primary hyperparathyroidism (PHPT) and co-existing vitamin D insufficiency have higher PTH levels, increased bone turnover and increased risk of postoperative hypocalcaemia. The 3rd International Workshop on PHPT recommended measurement of serum 25-OH Vitamin D in all patients with PHPT, and treatment where required to maintain 25-OH Vitamin D >50 nmol/l. Our study aimed to assess vitamin D status in ...

Background: NICE has issued the guidelines regarding the use of alendronate in the secondary prevention of osteoportic fragility fracture in women above 75 years in whom DXA scan is clinically inappropriate or not feasible and considered to have osteoporosis by the responsible clinician.Objectives: We conducted an audit on inpatients at the James Paget University Hospital to examine whether patients are receiving the appropriate interventions as stated i...

Background: Primary hyperparathyroidism (PHPT) and familial hypercalcaemic hypocalciuria (FHH) can both present with hypercalcaemia, but their management and prognosis are quite distinct. The 24 h urine calcium: creatinine clearance ratio (CCCR) is used to distinguish FHH from PHPT, where patients with FHH have a CCCR of <0.01. This study compares the use of a spot urine sample to measure CCCR with the gold-standard 24-h urine CCCR.Objective: To eval...

Introduction: X-linked hypophosphatemic rickets is the most common form of familial hypophosphatemic rickets. It is caused by a defect in renal phosphate transport leading to phosphate wasting and hypophosphatemia. Furthermore 1,25-dihydroxyvitamin D concentrations are inappropriately normal in regard to hypophosphatemia. Clinical manifestation of the disease are skeletal deformities, short stature, osteomalacia, dental abscesses, bone pain, and loss of hearing. PHEX is locate...

Background: The success of Minimally Invasive Parathyroidectomy (MIP) is closely linked to accurate preoperative localisation of a solitary parathyroid adenoma. Sestamibi/SPECT scan (SS) and ultrasonography (US) are the preferred imaging modalities although their accuracy varies considerably between different centres.Aim: To assess the efficacy of SS and US in identifying a solitary parathyroid adenoma in patients with primary hyperparathyroidism (PHPT) ...

GATA3 mutations cause the congenital autosomal dominant hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extracted. GATA3 spec...

Trans-differentiation of osteoblasts to adipocytes may in part be responsible for diseases such as osteoporosis and arthritis. The processes involved are however complex and largely unknown. Our previous data showed that the adenosine A2b receptor (A2bR) is important for human osteoprogenitor cell function. In this study, we investigated the expression of adenosine receptors in an osteoblast cell line (7F2) and during its differentiation into adipocytes (7F2A).<p class="ab...

In 2008, we presented data showing that combining sonography and scintigraphy investigations resulted in the correct identification of a parathyroid adenoma in 97% (28/29) patients undergoing parathyroid surgery for primary hyperparathyroidism (PHPT). Further to this audit we compared the treatment of PHPT against the standards set by NIH in 2008. All patients who had Setamibi +/ ultrasound scan over 18 month (July 2006 until December 2007) for biochemically confirmed PHPT wer...

Renal stone disease is a common disorder for which the underlying causes remain largely unknown. We have investigated a hereditary renal calcification mouse model, Rcalc1, that is not associated with hypercalciuria for underlying mechanisms. Kidney RNA from 30 to 33 week-old Rcalc1 and control BALB/c and C3H female mice (n=4/group) was extracted and hybridised to Mouse Genome 430 2.0 arrays (Affymetrix). Following Robust Multichip Average normalization, pair-wise compar...

Serum parathyroid hormone (PTH) and other parameters are measured post-parathyroidectomy to assess cure. A persistently raised serum PTH may indicate an unsuccessful procedure. However, vitamin D deficiency is increasingly recognised in the general population, and may be a cause of raised PTH post-surgery (secondary hyperparathyroidism). Persistently elevated post-operative PTH may continue to stimulate bone turn over and bone loss post-surgery. Our aim was to determine whethe...

Transient receptor potential cation channel, subfamily Vanilloid, member 5 (TRPV5) is a member of the TRP superfamily. TRPV5, which functions as a tetramer, is localized to apical membranes of distal convoluted tubules (DCT) and connecting tubules (CNT) of the kidney, and is involved in vitamin D-regulated calcium reabsorption. Mice with a targeted deletion of Trpv5 (Trpv5−/−) develop severe hypercalciuria, compensatory hyperabsorption of dietary ...

Adenosine 5′-monophosphate-activated protein kinase (AMPK), a regulator of energy homeostasis, has a central role in mediating the appetite-modulating and metabolic effects of many hormones and neuromodulators. We previously demonstrated similar neuroendocrine activation of AMPK in bone-forming osteoblasts. In this study, we tested whether stimulation of AMPK activity in osteoblasts plays a role in their function and whether deletion of the catalytic AMPKα1 subunit,...

Abnormalities of calcium homeostasis such as secondary or tertiary hyperparathyroidism, and renal osteodystrophy often occur in patients with kidney failure. However, investigations of the underlying molecular mechanisms have been hampered by the lack of available tissues from patients and the lack of suitable animal models. We therefore sought to overcome this limitation by investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea and identified...

Introduction: The role of hormones and their underlying mechanisms in the development of osteoporosis are complex and not completely understood. Serum SHBG concentration is increased in older men and may be correlated with reduced bone mineral density and increased fracture risk. However, there is little data on exact relation of BMD with 24-h mean concentration and circadian rhythm of SHBG.Methods: We measured 24-h mean SHBG concentration in 3 groups of...

Prolactin (PRL) is a peptide hormone produced by the anterior pituitary gland and it is commonly known for its lactogenic and mammotrophic effects. In humans and primates, prolactin is also expressed in extra-pituitary sites where it is associated with numerous biological functions, but its spectrum of expression varies in different species.Hyperprolactinemia-induced osteoporosis is believed to be mediated by hypogonadism, but the expression of the prola...