Endocrine Abstracts

A large population-based cohort of “diagnosed” primary hyperparathyroidism (PHPT) (n=2709) was established, 1997–2006, in Tayside, Scotland. We have previously reported on an increasing prevalence and increased risks of mortality and morbidity associated with these patients. In the course of the PEARS, a group of “possible” PHPT cases (n=2950) defined as having persistently elevated serum calcium over several months to years but with no P...

Background: Primary Hyperparathyroidism - Jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterised by hyperparathyroidism and ossifying jaw fibromas. Inactivating germline mutations in CDC73 gene (previously known as HRPT2) is the main cause of this syndrome. There is higher incidence of parathyroid carcinoma in these individuals and also an association with other renal lesions have been described. We report a case of HPT-JT syndrome with mutation in the ex...

Background: Primary hyperparathyroidism (PHPT) is a common endocrine disease expected to be curable in 95% of patients undergoing surgical treatment. The aim of this study was to assess the postoperative course of patients with failed surgical treatment.Methods: Prospective database recorded clinical, biochemical, radiological, operative and pathological details of patients operated in a large tertiary referral centre.Results: Betw...

We have previously demonstrated that 80% of patients with PTHP will have co-existing vitamin D deficiency suggesting an increased metabolism of vitamin D. There are few data assessing the impact and safety of different vitamin D preparations on calcium, parathyroid hormone (PTH) and vitamin D in this group. Here, we report the details of replacement therapy using different vitamin D preparations. In a retrospective study of 22 (20F:2M and 8 Asian:14 Non-Asian) patients with co...

Background: Male hypogonadism is associated with reduction in bone mineral density (BMD). This study aimed to determine the epidemiology of low BMD in a clinic-based cohort of hypogonadal men.Methods: This was a retrospective, cross-sectional observational study of 152 patients (≥18 years with testosterone(T) ≤11 nmol/L) who were consequently reviewed in an endocrine clinic. Data was extracted from electronic patient records and included base...

Case: A 22 year-old female student presented with a history of recurrent pancreatitis since 2007. The most common causes of pancreatitis, including drugs, gallstones, corticosteroids, excess alcohol and hypertriglyceridaemia were excluded. She was noted to have elevated serum calcium, which was considered to be the cause of her pancreatitis, with a detectable serum PTH level. An initial diagnosis of primary hyperparathyroidism was made. However, two neck explorations failed to...

Diagnosis of primary hyperparathyroidism is often made incidentally following routine biochemical screening. Parathyroidectomy is usually carried out in patients at risk of disease progression or with clinical features that may improve and that is in line with NIH guidance. Current recommendations suggest that Minimally Invasive Parathyroidectomy (MIP) should take place only if sestamibi and ultrasound findings are concordant. We studied the medical notes of 53 patients, aged ...

Osteopathia striata with cranial sclerosis is an X-linked disease caused by mutation in the gene encoding WTX that controls cell signaling affecting bone turn over. While the disease is almost always lethal in males, females exhibit cranial sclerosis, craniofacial dysmorphism and longitudinal sclerotic striations on the long bones. Here is a case of 25 year old female referred to the metabolic and bone clinic for further assessment of chronic back pain and stiffness of the low...

Introduction: As there are scarce data on the clinical case load and multidisciplinary input provided for patients with osteogenesis imperfecta (OI), we performed a survey of patients with OI attending bone and genetic clinics in Glasgow.Methods: Clinical details of 53 children(M:28) and 23 adults(M:9) were obtained by a review of case records.Results: The median age at presentation in children was 4.5 yrs (range 0.2–13.5), wi...

A 27 year old lady with Graves’ thyrotoxicosis (fT4 50.3 pmol/L, fT3 25.0 pmol/L, TSH<0.05 mU/L) failed to respond adequately to carbimazole (40 mg BD) or propylthiouracil (250 mg QDS). Three months later, following 10 days of potassium iodide to render her biochemically euthyroid, she underwent a total thyroidectomy. Pre-operative bone profile revealed Ca(c) 2.34 mmol/L (NR 2.15–2.60 mmol/L), phosphate 1.36 mmol/L (NR 0.8–1.4 mmol/L), PTH 3.4 pmol/L (NR 1.1...

Aim: We performed a retrospective analysis to evaluate the surgical treatment of primary hyperparathyroidism in a tertiary referral centre.Methods: We reviewed the case notes of 80 patients who underwent parathyroid surgery (2003 to 2011). Patients were identified from the national BAETS audit.Results: Median age was 56 years (range 25–86). 72.5% of the patients were females and 30% were asymptomatic. Mean adjusted calcium con...

Aims and Objectives: We conducted a study of 71 patients with Primary Hyperparathyroidism being managed in a single site Joint Endocrine Service. We sought to review the adherence to current international guidelines in managing these cases, and the effectiveness of pre-operative localization to inform surgical options.Results: A total of 71 cases were reviewed, of whom 35 were managed conservatively and 36 underwent surgery. Every patient undergoing surg...

Osteoporosis in men is increasingly being recognized as a public health issue. Thirty percent of hip fractures occur in men, and one in eight fractures occurs in men above 50 years of age.Objectives: To assess the prevalence of osteoporosis in healthy male subjects using Bone Mineral Density (BMD) as measured by Dual energy X-ray absorptiometry (DXA), and to study the influence of various factors which influence BMD.Methods: Health...

We report a case of a 51 year-old gentleman with increased serum creatine kinase (CK) due to hypocalcaemic tetany caused by idiopathic hypoparathyrodism. Raised CK (1738 u/L) was incidentally noted in this patient by his GP. He had ongoing symptoms of hypocalcaemia with intermittent tetanic spasms in his hands and scalp and easy fatigability for 2 years. His examination showed normal stature, no evidence of myopathy with normal deep tendon reflexes, Trousseau’s sign was p...

An 80 year old patient was diagnosed with asymptomatic, mild primary hyperparathyroidism in 2005 and managed conservatively with regular biochemical monitoring. Other medical history included atrial fibrillation, hypertension, CKD stage 3, type 2 diabetes and memory impairment. In 2011, in view of increasing calcium, he was referred to the endocrine surgeons to consider parathyroidectomy. A very low 25 (OH)vit D (12 nmol/L) prompted high dose oral cholecalciferol treatment. Th...

Introduction: There are many reports describing the association of alternations of bone and mineral metabolism in patients with epilepsy receiving long term anticonvulsant therapy. However, there are only a few Indian studies which have looked at this aspect. Objective: This study was done to compare the prevalence of changes in bone mineral parameters and bone mineral density (BMD) in ambulant individuals on long term anticonvulsant therapy with age and BMI matched healthy co...

Introduction: Primary hyperparathyroidism (PHPT) affects 0.3% of the population. It is characterised by hypercalcaemia with an inappropriately high parathyroid hormone level. The majority of patients with primary hyperparathyroidism are asymptomatic and are diagnosed following an incidental finding of hypercalcaemia. Symptomatic disease is related to hypercalcaemia and can present with complications such as renal calculi and osteoporosis. Parathyroidectomy is the treatment of ...

Hypercalcemia is commonly caused by primary hyperparathyroidism. Other causes of hypercalcaemia can be seen in the clinical setting, and it is important to consider these alternative diagnoses as the management differs dramatically from the management of primary hyperparathyroidism. We present a series of four patients presenting with four different granulomatous conditions causing hypercalcaemia. These were secondary to Tuberculosis, Sarcoidosis, Wegener’s granulomatosis...

The aim of this audit was to assess the efficacy of vitamin D replacement therapies (oral Ergocalciferol D2 and Cholecalciferol D3) on serum Vitamin D (25(OH)D), when dispensed to endocrine outpatients. After exclusions, clinic records of 54 patients were analysed for pre- and post dosage serum 25(OH)D levels, PTH levels, total dosage given, and duration of replacement. Results: Mean total dose of D2 (n=24) was 350,000 (IU) against D3 (n=30) 305,000 (IU), with av...

A 70 year old Afro-Caribbean gentleman was referred for investigation of hypercalcaemia. He had a past medical history of prostate cancer treated 10 years previously with radical prostatectomy and radiotherapy, type 2 diabetes and hypertension. There was no family history of note. At the time of his operation, his calcium was noted to be high 2.87 mmol /L (nr 2.15–2.6) and his creatinine was 87 but this was not investigated further. At the first clinic visit, his correcte...

Background: Multiple sclerosis (MS) is associated with low ambient ultraviolet B (UVB) light in childhood and in utero (relative risk of developing MS is 1.2 for those born in spring). Besides, the MS-linked HLA-DRB1 allele interacts strongly with vitamin D in vitro, and vitamin D levels are lower in MS patients. Fatigue and musculoskeletal aches/pains are prominent symptoms in both MS and vitamin D deficiency. Moreover, having any chronic disease may predispose to stay...

A 74 year old lady presently to casualty with generalized ill health, vomiting and a mechanical fall. She was well known to the psychiatry team with severe depressive disorder managed with Lithium. Clinical examination was unremarkable. Baseline blood tests confirmed hyperparathyroidism with corrected calcium of 3.24 mmol/l and high parathyroid hormone levels of 13.4 pmol/L. Lithium levels were normal. She improved clinically with intravenous hydration followed by pamidronate ...