Endocrine Abstracts

The objective of this project was to develop and characterise a simple immunoassay for the quantification of free 25-hydroxyvitamin D (25OH Vit D). Recent studies suggest that the concentration and genotype of vitamin D binding protein (DBP) are important factors that determine the bioavailability of 25OH Vit D in blood. It has been suggested that measurement of free, non-protein bound 25OH Vit D in serum, may provide more relevant diagnostic information than total 25OH Vit D,...

A 55-year-old Saudi woman with a complaint of anterior maxilla mass of 1 month duration. Initial examination revealed a painful mass in the anterior maxilla. Surgery was not undertaken because routine laboratory investigations revealed hypercalcemia.Initial laboratory tests performed on admission showed the following: alkaline phosphates 143 IU/l, corrected serum calcium 3.2 mmol/l, PTH 120 pmol/l A provisional diagnosis was made for h...

The measurement of 25OH vitamin D has tremendously evolved since the first competitive protein-binding assay. Amongst the different techniques that are now routinely employed, ELISA still represents a common tool to quantify the level of 25OH Vitamin D in individuals. Several 25OH Vitamin D ELISA assays have been developed and commercialized in the last 3 years. They all differ by the antibody used and by the technology that is applied to release 25OH Vitamin D from its bindin...

Introduction: Osteoporosis and fractures are common in liver disease and fracture incidence increases after orthotopic liver transplantation (OLT). The value of bone turnover markers (BMTs) in the prediction of bone loss and fracture risk pre- and post-OLT is not known.Study design: The BMTs P1NP, osteocalcin, BALP and CTX were measured initially or in Biobank stored sera at screening and at 3, 6 and 12 months post-OLT in consecutive OLT recipients betwe...

Introduction: Oxidative damage may be responsible for pathogenesis and complications of many diseases. Vitamin D deficiency has been suggested as a potential mediator of various extra-skeletal pathologies. However, there are limited data on anti-oxidant properties of vitamin D.Methods: Forty-one subjects with vitamin D deficiency and 30 healthy controls were enrolled in the study. The levels of total anti-oxidant status (TAS), total oxidant status (TOS),...

Vitamin D deficiency is very common in India. Doctors are vulnerable to Vitamin D deficiency since they are almost always indoors. The purpose of this study was to assess the Vitamin D status among doctors in a tertiary referral centre in Kerala, a southern state of India.Methods: Levels of Vitamin D, calcium, phosphorus, alkaline phosphatase, and parathyroid hormone were assessed among 82 doctors and 50 healthy control subjects using ChemiLuminescence i...

Background: Diabetes mellitus, hypovitaminosis D, and non-alcoholic fatty liver disease (NAFLD) are common medical conditions that share some risk factors, one of which is obesity. Both NAFLD and vitamin D deficiency have been linked to the development of metabolic syndrome and type 2 diabetes. The aim of this study is to evaluate the level of serum 25-hydroxy vitamin D [25(OH)D] in type 2 obese diabetic Egyptian patients with variable degrees of hepatic steatosis.<p class...

Background: Vitamin D is a growing endemic problem. Wide proportions of healthy adults are deficient in vitamin D. It is very important for skeletal and non-skeletal health. It is now well established that many people have vitamin D levels that are less than currently recommended for optimal healthAim of this work: To assess vitamin-D sufficiency/deficiency in a sample of healthy Egyptian adult males in Dakahlia Governorate in Northern Egypt and correlat...

Introduction: Vitamin D deficiency may be an important predisposing factor for infections as well as autoimmune diseases in old individuals. Neutrophil/lymphocyte ratio (NLR), is a meaningful indicator of inflammation throughout the body. In this study we aimed to show, whether or not a relationship exists between vitamin D levels and NLR in patients older than 65 years.Materials and method: Data of 82 patients over 65 years of age was retrospectively ex...

Background: Women with type 2 diabetes mellitus (T2DM) have a higher risk of fractures despite increased bone mineral density (BMD). In experimental studies a potential role of plasminogen activator inhibitor-1 (PAI-1) in bone remodelling is suggested but studies in humans are lacking. This is a first study in humans investigating whether circulated levels of PAI-1 in postmenopausal women with T2DM are related to BMD and adiposity.Methods: Anthropometric...

Introduction: The aim of this study was to compare prolactin receptor gene (Prlr) expression in the duodenum, vertebra and kidney, during physiological and medicamentous hyperprolactinaemia.Methods: Wistar female rats 18 weeks old were divided into: Group P: nine rats, 3 week pregnant; Group M: ten rats that were intramuscular administrated Sulpirid (10 mg/kg) twice daily for 3 weeks; and age matched nulliparous rats as a control group: ten rats...

Fibroblast growth factor-23 (FGF23), a phosphate-regulating hormone is elevated in hypophosphataemic syndromes and is a predictor of mortality in patients with kidney disease. Recent findings demonstrate iron deficiency as a potential mediator of FGF23 expression and murine studies have shown in utero effects of maternal iron deficiency on FGF23 and phosphate (P) metabolism and bone formation (Clinkenbeard, JBMR, 2013).The aim of the cu...

Background: 25 hydroxy vitamin D (25(OH)D) vitamin levels are positively associated with bone mineral density and season, time of day and sun exposure duration influence its synthesis. Variations in daylight throughout the year and zenith angle, depending on the latitude of residence, influence u.v. solar radiation which is closely related to serum 25(OH)D levels. The aim of this study was to investigate the degree of seasonal variation of 25(OH)D serum levels in a population-...

Background: Hashimoto’s thyroiditis (HT) is a common autoimmune disease of thyroiditis. There is a relation with Vitamin D levels, vitamin D receptor (VDR) and HT reported. More than 30 gene polymorphisms are found in VDR gene. The most common four types of polymorphisms studied in autoimmune disease are FokI (exon 2), BsmI (intron 8), ApaI (intron 8) and TaqI (exon 9). The aim of this study is to investigate the association between VDR TaqI gene polymorphism and HT subty...

Background: Hashimoto’s thyroiditis is the most common autoimmune endocrine disorders and often leads to hypothyroidism. There is a relation with Vitamin D levels, vitamin D receptor (VDR) and HT reported. More than 30 gene polymorphisms are found in VDR gene. The most common four types of polymorphisms studied in autoimmune disease are FokI (exon 2), BsmI (intron 8), ApaI (intron 8) and TaqI (exon 9). The aim of this study is to investigate the association between VDR Fo...

Introduction: Long-term therapy with bisphosphonates is considered a risk factor for the development of atypical fractures of the femur. One of the mechanisms of these fractures is excessive suppression of bone metabolism. The supplementation dose of vitamin D and calcium could have an impact on the degree of suppression of bone turnover.The aim: To determine whether the presence or dose of supplementation with vitamin D and calcium during antiresorptive...

We present the case of a 58 years old woman with a long history of Graves’ disease and mild hypercalcaemia (total calcium registered a maximum of 11.1 mg/dl) that was first interpreted as a consequence of hyperthyroidia. After 10 year of being treated with anti-thyroid drugs the patient finally decides to undergo surgery. Immediately after surgery this particular patient does not develop hypoparathyroidism, her calcium level remaining a little high. Six weeks after surger...

Introduction: Roux-en-Y gastric bypass (RYGB) places patients at an increased risk of hypocalcemia due to the reduction in calcium absorption (because the procedure bypasses the duodenum and jejunum) and vitamin D deficiency. Subsequent thyroid surgery increases the risk of severe hypocalcemia due to potential post-operative hypoparathyroidism. Only a few cases have been published before of this kind of treatment-challenging hypocalcaemia.Case report: We...

Introduction: Despite high levels of sunshine, maternal hypovitaminosis D during pregnancy is prevalent in the Mediterranean region, consisting a paradox. The aim of the study was to systematically review trials that investigated vitamin D concentrations during pregnancy in this region, in order to determine predictors of hypovitaminosis D and explain the paradox.Methods: After applying inclusion/exclusion criteria, 15 studies were entered into the syste...

Introduction: Obesity was thought to be protective against osteoporosis, but studies have shown conflicting results. We analysed the cross-sectional data from the National Health and Nutrition Examination Survey Data (NHANES) survey (2008–2012) to observe the association between BMI (BMI and/or waist circumference) and bone mineral density (BMD) at the femoral neck.Research methods and design: We categorised the study population (women aged 50 years...

Introduction: Osteopenia/osteoporosis in young adults with β-thalassemia major (BTM) is a prominent cause of morbidity despite adequate transfusion and iron chelation therapy. The reported frequency of osteoporosis, even in well treated TM patients varies from 13.6% to 50%, with an additional 45% affected by osteopenia.Case report: We present the case of a 36-years-old male patient with BTM treated for 1 year with teriparatide for osteoporosis. Our ...

Introduction: Intraoperative quick PTH (iqPTH) monitoring is important in the treatment of primary hyperparathyroidism (pHPTH), allowing, together with preoperative localisation, the switch from routine bilateral neck exploration to limited gland excision.Aims: We checked the advantage of iqPTH for improving the cure rate of patients operated for pHPTH by using minimally invasive surgery (MIS).Materials and methods: Retrospective s...

Introduction and aim: Osteopetrosis is a rare genetic disorder of reduced osteoclastic bone resorption. Defective bone remodelling induces skeletal sclerosis and abnormally dense but brittle bones. We present here a case of autosomal dominant osteopetrosis type II as a cause of high bone mineral density (BMD).Case report: A 52-years-old woman with a complaint of bone pain and headache referred to our clinic for evaluation of high BMD. Her medical history...

Introduction: Hypocalcaemia is present in half of the patients with 22q11.2 deletion syndrome (DiGeorge-velocardiofacial syndrome). Most of these cases are diagnosed during childhood.Case report: A 56-year-old man was evaluated for symptomatic hypocalcaemia after undergoing a left nephrectomy because of renal tumour. He had paraesthesia around his mouth and hands and Trousseau’s sign. His past medical history included high blood pressure, type 2 dia...

We report on the clinical and biochemical outcomes in a 20-year-old male suffering from active craniofacial monostotic fibrous dysplasia (MFD) treated with the RANK-L inhibitor, Denosumab, following unsatisfactory responses to prior long-term bisphosphonates therapy. The patient had been treated over 9 years with pamidronate (cumulative dose of 81 mg), but experienced only mild reductions in pain scores. Following initiation of Denosumab 60 mg subcutaneously, bone pain and bon...

Introduction: Hypophosphataemic rickets (HR) is a rare genetic disorder characterized by poor growth, short desproporcionate stature and lower limb anomalies. Clinical manifestations usually appear before 1 year of age, this entity is characterised by osseus hypomineralisation, secondary to the increased expression of phosphatonins, especially FGF23, which acts in the sodium and phosphate co-transporters of the proximal convoluted tubule, inducing phosphaturia. HR exhibits AD,...

Background: Quantification of 1,25-dihydroxyvitamin D (1,25(OH)2D) remains challenging because of low circulating concentrations and potent cross-reactivities with steroid-like structures. The most frequent assays for 1,25(OH)2D testing are still based on RIA format with preliminary extraction. The analytical performances and the turnaround time of analysis (TAT) for these assays are limited. Several novel assays for 1,25(OH)2D testing are emer...

Introduction: Vitamin D deficiency occurs more frequently in patients with primary hyperparathyroidism compared to general population, and is usually associated with an aggravated form of the disease. Current guidelines recommend measurement of vitamin D level in all patients with primary hyperparathyroidism, and their repletion if the levels are <50 nmol/l.Case report: We present a 56 years old Caucasian lady who underwent right parathyroidectomy &#...

Introduction: Hypopituitarism is a known cause of bone mineral loss. Our study aimed to evaluate the frequency of osteopenia and osteoporosis in patients with Sheehan’s syndrome and to evaluate its management.Subjects and methods: It is a retrospective longitudinal study concerning 60 cases of Sheehan’s syndrome that have had a bone mineral density measurement. The parameters of osteodensitometry, the received treatment and the follow up data w...

Anaemia prevalence is reported between 5 and 31.8% in patients with PHPT. Anaemia in PHPT shows correlations with serum calcium, PTH, alkaline phosphatase levels, severity of the bone disease and PHPT duration. In this study we compared pre-operative and post-operative haemogram parameters of patients with PHPT who received a parathyroidectomy at our department. We determined the prevelance of pre-operative anaemia, thrombocytopenia, neutropenia and observed if any of this par...

The role of the thyrotropin receptor (TSHR) in bone is unclear. TSHR-deficient mice have low bone mineral density (BMD) and focal osteosclerosis despite normal thyroid hormones (suggesting TSHR function, in bone, is important). Subclinical hypothyroidism (SH) has various aetiologies including thyroid autoimmunity (TA) and inactivating TSHR mutations (TSHR-M). In TSHR-deficiency & TSH-M elevated TSH compensates for reduced TSHR function, whereas in TA it compensates for red...

There is increasing interest in the role of vitamin D deficiency in a number of chronic health problems including autoimmune diseases. The aetiology and pathogenesis of most autoimmune disorders remain obscure and a number of factors have been implicated in their pathogenesis, one of the most recent agents found to be associated with autoimmunity is vitamin 25(OH)D. The aim of the study was to assess total vitamin 25(OH)D status in patients with autoimmune thyroiditis with sub...

Hypoparathyroidism is characterised by parathyroid hormone (PTH) levels inadequate to maintain plasma calcium concentration within the normal range. Even if the conventional treatment with calcium supplements and active vitamin D analogues is usually able to maintain normocalcemia, episodic low plasma calcium, neuromuscular complaints, renal disease and gastric discomfort are not infrequent. 29 patients with post-surgical hypoparathyroidism were started on PTH 1–34 therap...

We evaluated 341 postmenopausal women, aged 29–84 years (mean age 58.18±9.01) and referred to the Center for Osteoporosis starting December 2013. Secondary causes of osteoporosis/bone loss and patients under antiosteoporotic medication or under vitamin D substitution were excluded from the study. All patients performed DXA measurement (Dexxum T, Osteosys, Inc., South Korea) (same expert). FRAX and 25 HO vitamin D levels were determined. We defined vitamin D deficienc...

Materials and methods: A survey was 95 people (45 people with diabetes mellitus type 1, 50 people with diabetes mellitus type 2). The age of examined patients 39.12±3.8. The disease duration ranged from 6 to 20 years. Level of biochemical indicators – normal limits. Condition of mineral density of a bone tissue it was estimated by method of a dual-energy X-ray absorptiometry (DEXA). The analysis of DEXA researches showed that change of mineral density of a bone tissu...

Introduction: Primary hyperparathyroidism (PHPT) is usually caused by a single hyperfunctioning parathyroid adenoma. Preoperative localization studies allow for minimally invasive surgical removal. We present a case of PHPT caused by a solitary adenoma that could not be localised pre-operatively and review existing and emerging localisation modalities.Case report: A 65-year-old Chinese lady admitted for neck of femur fracture was found to have hypercalca...

Introduction: Successful parathyroid surgery in patients with OFC leads to early and marked improvements in BMD but data on very early changes in bone markers are missing.Case report: A 20-year-old girl was hospitalised because of severe bone pains and multiple pathological fractures (left humerus and left proximal femur) after minimal trauma. She had lost weight, was amenorrhoeic for the last 12 months and was bleeding from brown tumours in her mouth. S...

Introduction: Primary hyperparathyroidism (PHP) in pregnancy is very rare condition and the true incidence of PHP in pregnancy is not well known. PHP is associated with significant maternal and foetal morbidity and mortality. PHP is diagnosed based upon levels of blood calcium and parathyroid hormone (PTH) in normal renal function status. However diagnosis of PTH can be difficult, the physiological changes of pregnancy in calcium homeostasis such as maternal blood volume expan...

Introduction: The use of Bisphosphonates could be a treatment option of osteoporosis secondary to primary hyperparathyroidism (OPHP) in patients not eligible or that refuse/reject surgery.Methods/design: We analysed data of 46 patients diagnosed of OPHP. Fourteen underwent surgery and 32 were treated with bisphosphonates at standard dose. Densitometric parameters and of calcium-phosphorus metabolism were analyzed before and after 1 and 2 years of treatme...

Introduction: Over the past few years the clinical relevance of serum uric acid level has changed. The elevated serum uric acid level not only impairs the joints and the kidney function but it is also linked with an increased risk of cardivascular diseases. The aim of our study was to examine how bones are affected (change of bone mineral density (BMD), bone metabolism parameters, serum 25-hydroxyvitamin D levels and frequency of fractures) by elevated serum uric acid level.</...

Aim: To determine clinical predictors of parathyroid gland carcinoma recurrence.Methods: We evaluated outcome of eight patients with primary hyperparathyroidism due to parathyroid carcinoma who were followed at University Hospital Centre Zagreb in period from 2004 to 2014. The median follow-up was 6 (range 2–14.5) years. Six patients (three male, three female; median age 57.5 (42–71) years) experienced long-term remission after the surgery wher...

Introduction: Reduction in bone mineral density (BMD) is a common feature in primary hyperparathyroidism (PHPT), involving mostly cortical site. In the management of asymptomatic PHPT (aPHPT), guidelines indicate measuring BMD at lumbar spine, hip and forearm and surgery is recommended for patients with a T-score of −2.5 or less at one of these sites. However, BMD at forearm is not always performed.Aim: Our aim was to evaluate the impact o...

Introduction: Hypercalcaemia is well associated with metastatic malignancy. Hypocalcaemia is an uncommon complication of osteoblastic metastases and occurs most commonly with breast and prostate carcinoma.Case: A 46-year-old woman with metastatic breast carcinoma and osteoblastic skeletal metastases treated with denosumab presented with severe symptomatic hypocalcaemia. Serum calcium was persistently low with a nadir value of 1.45 mmol/l (2.2–2.6) a...

Introduction: Osteoporosis is a metabolic disease that is characterised by low mineral bone density (BMD) and increased risk of fractures. Weight loss reduced BMD and increased risk of hip fractures, while it reduces in a weight gain. Osteoporosis fracture risk and BMI correlate more frequently denied in recent studies. The aim of this study was to examine relationship between BMI and BMD in a group of postmenopausal women.Design: The study involved 100 ...

Introduction: Bisphosphonates are commonly used in the treatment of osteoporosis. The aim was to determine the effect of bisphosphonate therapy for osteoporosis on bone mineral density (BMD) depending on the Dolga index.Materials and methods: The study included 36 postmenopausal women with osteoporosis. BMD was measured by DXA of the spine and hip before treatment and 2 years after starting bisphosphonate therapy. Parameters of bone turnover: osteocalcin...

Introduction: Decreased bone formation has been proposed as a mechanism involved in the higher risk of fractures in diabetic patients. Some clinical studies have found that sclerostin (SCL, a negative regulator of bone formation) is increased in diabetic patients. However, there is no information about the relationship between SCL and new onset diabetes after transplantation (NODAT). The aim of our study is to evaluate serum SCL levels in a cohort of patients with liver transp...

Introduction: X-linked hypoparathyroidism is an extremely rare disease, so far described in only two multigenerational kindreds. In US, who later on the genetic testing were found to be interrelated. W describe X-linked congenital hypoparathyroidism in a family from India.Case report: Case 1 presented with hypocalcaemic non-febrile generalised tonic clonic seizures at 16 months of age. Seizures controlled after hypocalcaemia correction. He was put on T. ...

Introduction: Mitochondrial diseases usually occur by mutations of mitochondrial or nuclear DNA. Mitochondrial cytopathy is a disease affecting many systems including endocrine system. We present a case diagnosed as mitochondrial myopathy previously accompanying multiple endocrinological pathologies.Case: Fifty-two years old female patient admitted in another center with a complaint of drooping of upper eyelids 25 years ago. Acetylcholine receptor antibo...

Our aims were to follow the longitudinal changes after 5-year in femoral neck (FN), femoral trochanter (FT), L2, L3, L4 and L2–L4 bone mineral density (BMD) in Spanish postmenopausal women and to study whether the polymorphism BsmI in the vitamin D receptor (VDR) may influence these results.We conducted a 5-year prospective study of BMD and its change in 174 women, aged 43–78 years. BMD was measured by densitometry. The women were members of th...

Introduction: Cinacalcet is an oral calcimimetic indicated in treatment of primary hyperparathyroidism in patients who are unable to undergo parathyroidectomy: do not accept surgery, there is failure of previous surgery or serious comorbidity that makes surgery impossible.Methods: Descriptive study that includes nine patients with primary hyperparathyroidism who have completed at least 48 months of treatment with cinacalcet (seven patients refusal to par...

Introduction: Primary hyperparathyroidism results in increased bone resorption. The presence of osteoporosis is at present an established surgery criteria.Objective: The aim of this study was to evaluate the changes in bone mineral density (BMD) after surgery in patients with primary hyperparathyroidism.Material and methods: Retrospective study of 58 patients with primary hyperparathyroidism treated by parathyroidectomy from 2004 t...

Introduction: Oral supplements are important to prevent and treat vitamin D deficiency. Membrane transporters could be involved in its absorption. As vitamin D is structurally similar to cholesterol, it is possible that they share absorption mechanisms. Ezetimibe decreases cholesterol absorption, through inhibition of NPC1L1 transporter. It has been shown in vitro and in rodents that ezetimibe decreases vitamin D absorption, so the aim of this study was to evaluate th...

Introduction: Fibroblast growth factor 23 (FGF23) excess is the cause of chronic hypophosphatemia in rare conditions such as X-linked hypophosphataemic rickets (XLHR) and tumour-induced osteomalacia (TIO), but animal studies indicate that the effect of FGF23 on serum phosphorus is dependent on the presence of parathyroid hormone (PTH). In this case series of rare disorders with abnormalities in renal phosphorus handling, we sought to explore the relative roles of PTH and FGF23...

Introduction: Low concentration of serum 25-hydroxyvitamin D (25-OHvitD) have been associated with low bone loss and risk of falls in postmenopausal women. Moderate obesity is not a risk factor for osteoporosis.Aim: The aim of this study was to investigate how vitamin D concentration correlates with muscle strength and bone density in moderately obese postmenopausal women.Methods: We include 33 postmenopausal women, between 50 and ...

Introduction: Differential diagnosis of hypocalcaemia is extensive, and careful diagnostic algorithm should be performed to adequately treat hypocalcaemic disorders.Case report: Two female patients with hypocalcaemia are presented. The first one was 49 years old, admitted to hospital due to weakness, hampered mobility and bone pain (hips, thorax). Six years ago she was hospitalized due to chronic renal failure, osteoporosis, fractures of hip neck and bot...

Objectives: We aimed to find if there is any relationship between vitamin D levels and clinical, laboratory parameters and osteoporosis, in primary hyperparathyroidism (PHPT).Material and methods: 128 patients with PHPT and 30 patients as a control group were analysed. Patients with PHPT were grouped due to vitamin D levels and levels low than 20 μg/ml accepted as deficiency.Results: Patients with 25-OH vitamin D <20 &#956...

Introduction: Primary hyperparathyroidism (pHPT) is a common endocrine disease mainly caused by single or multiple hyperfunctioning parathyroid lesions. In 2–7% of cases, surgery is not curative at first operation and reoperation is required. Ultrasonography and sestamibi scan are the most widely used methods for identification of the culprit parathyroid gland with the disadvantage of high false positives caused by other cervical pathologies. Herein we aimed to search the...

Introduction: Klinefelter syndrome patients (KS) frequently show low bone mass, which could have multiple aetiologies. The structural basis of low bone mass and its consequences on bone strength are almost not known, but analogies in bone microstructure and strength between KS and ageing women have proposed by studying distal tibia by HRpQCT. The aim of this study was to compare proximal femur strength and bone structure of KS with elderly women and men....

Introduction: 18F-fluorocholine is a PET tracer used in the diagnostic work-up of patients with prostate cancer but was incidentally found to detect other tumours such as meningiomas, pituitary and parathyroid adenomas. 18F-fluorocholine PET/MRI is currently under investigation as an imaging tool for detecting hyperfunctioning parathyroid glands in primary or secondary hyperparathyroidism, especially in patients qualifying and willing to undergo parathyro...

Primary hyperparathyroidism (PHPT) is a common disorder in adults but is uncommon in young people and features of juvenile PHPT (J-PHPT) are debated in literature. The aim of the study was to evaluate the characteristics of PHPT in juvenile sporadic (S) and familial (F) patients. It’s a monocentric prospective study at a referral centre in 154 patients with ≤40 years. Patients were evaluated at diagnosis and at the last follow-up visit (median follow-up 2 years), co...

Introduction: Hyperparathyroidism is common in patients with end-stage renal failure (ESRF): up to 20% require treatment for hyperparathyroidism within 10 years of commencing haemodialysis. Despite the significant cost of long-term medical treatment with calcimimetics and poor patient compliance, only a minority of patients are referred for surgery, usually due to their significant co-morbidity.Methods: Outcome data of patients with secondary or tertiary...

Introduction: Vertebroplasty is a commonly performed technique in the management of vertebral compression fractures. However, it is associated with some serious adverse effects. Most complications are related to the leakage of bone cement (polymethylmethacrylate) into the spinal canal or the perivertebral venous system.Case report: A 74-year-old lady was subjected to percutaneous verterbroplasty for osteoporotic compression fractures on T11, T12, L1 and ...

Hyponatraemia represents an independent risk factor for osteoporosis and fractures, affecting both bone density and quality. A direct stimulation of osteoclastogenesis and bone resorption in the presence of reduced extracellular sodium concentrations ([Na+]) has been shown, but, to date, the effects of reduced [Na+] on osteoblasts have not been elucidated. This study investigated the effects of a chronic reduction of extracellular [Na+], independently of osmotic stress, on hum...

Introduction: Osteopenia and osteoporosis develop with aging in thalassemia patients despite clinical treatment therapy has improved. Bisphosphonates, which are potent inhibitors of osteoclastic bone resorption, have been recently used to correct the bone abnormality in thalassemia with encouraging results. Bisphosphonates are a class of drugs that prevent the loss of bone mass, used to treat osteoporosis and similar diseases. They are the most commonly prescribed drugs used t...

Pseudohypoparathyroidism type 1a (PHP1a) is disorder characterised by resistance to the biological actions of circulating parathyroid hormone (PTH) along with typical features of Albright’s hereditary osteodystrophy (AHO). Tissue-specific imprinting of GNAS gene results in complete resistance to PTH in renal proximale tubule, but skeletal responsiveness to PTH appears intact, since Gαs is biallelically expressed in human bones. The objective of this study was to dete...

Introduction: Type 1 diabetes secondary osteoporosis is an underdiagnosed condition and there are few studies that addressed the topic of clinical risk factors in this context, although, for a better diagnosis and management, it is of great importance to find such predictors.Aim: To evaluate bone mineral density and parameters of bone metabolism in patients with type 1 diabetes in comparison with a group of healthy subjects and to determine possible risk...

Introduction: Osteoporosis is a well-known and extremely debated side effect of glucocorticoid therapy being able to generate vertebral fractures even at low doses. Our study highlights the need for better prevention through improved doctor-patient communication and correct implementation of available screening tools.Methods: Since August–December 2014 we distributed to 85 rheumatic patients a self-compiled questionnaire. We recorded patient data an...

Introduction: Barakat syndrome is a very rare disease and an uncommon aetiology of hypocalcaemia. Also known as HDR syndrome it is an autosomal dominant disorder characterised by hypoparathyroidism, sensorineural deafness and renal disease.Clinical case: A 59-year-old Caucasian woman was admitted to our Endocrinology ward in May 2014 due to hypocalcaemia despite being medicated with oral calcium. At 35 years old a diagnosis of hypoparathyroidism was esta...

Introduction: Commonly used pre-operative methods (ultrasonography and sestamibi scan) to localize the culprit parathyroid gland(s) in patients with primary hyperparathyroidism (PHPT), frequently yield false positive or false negative results. Parathyroid hormone (PTH) washout after fine-needle aspiration (FNA) may allow for a targeted surgical approach. The aim of this study was to test the diagnostic value of preoperative PTH washout after FNA in PHPT patients.<p class="...

Background: Vitamin D (VD) deficiency is important risk factor of fractures. Yet, the relation of serum 25-hydroxyvitamin D (25OHD) levels and recovery of fractures is poorly studied. Our aim was to investigate the VD supply in hip fractures also with regard to lifestyle and other clinical (malignancy, kidney and liver disease, osteoporosis) conditions.Method: 25OHD (protein binding assay, Cobas, Roche) and parathyroid hormone (PTHi) (electrochemilumines...

Introduction: The best repletion and maintenance dosing regimens with cholecalciferol in vitamin D deficient HIV-1 patients remain unknown. Protease inhibitors (PIs) have been shown to inhibit vitamin D 1α- and 25α-hydroxylation in hepatocyte and monocyte cultures. We therefore evaluated the effect of a single high dose of cholecalciferol in vitamin D deficient HIV-1 postmenopausal women undergoing treatment with highly Active Anti-Retroviral Therapy (cART), with and...

Aims: To study the association of protein tyrosine phosphatase (LMW–PTP/ACP1) polymorphism with bone mineral density and metabolic parameters of bone remodelling.Methods: BMD (g/cm2) was measured by DEXA in 760 subjects: 448 normal BMD (359F/89M; 49.7±12.9 years; 30.2±5.4 kg/m2) and 312 osteoporosis (265F/47M; 63.9±10.4 years; 27.16±4.4 kg/m2). Metabolic bone remodelling parameters were analyzed: ...

Familial hypocalciuric hypercalcaemia (FHH) is a characteristically asymptomatic condition that is caused principally by calcium sensing receptor gene (CASR) mutations and less frequently by GNA11 or AP2S1 mutations. We report a case of recurrent symptomatic pancreatitis in an FHH patient. The 17-year-old patient was hospitalized with abdominal pain and raised pancreatic enzymes due to acute pancreatitis. The only predisposing factor on investigation was a very elevated serum ...

Introduction: Parathyroid adenomas are the main cause of primary hyperparathyroidism. They are usually small – weighing <1 g – and not easy to find – requiring meticulous imaging studies for localisation. Giant adenomas are uncommon; large tumours and high levels of PTH raise the suspicion of parathyroid malignancy.Case presentation: A 68-year-old female presented in our clinic with polydipsia, poliuria, nausea, weight loss, and extrem...

Introduction: β-thalassemia (bT) is associated to several endocrine abnormalities mainly due to iron overload. With the increase in bT-patients life expectancy, due to progresses in iron chelation therapy, more patients enter into adulthood than in the past and the prevalence of endocrine diseases is being reconsidered. The aim of the study is to investigate the prevalence of primary hypoparathyroidism (pHPT) in adult bT-patients and to characterize the relative clinical ...

Introduction: Hypoparathyroidism is most commonly observed following neck surgery and is characterized biochemically by deficient parathyroid hormone (PTH) and hypocalcaemia alongside hyperphosphataemia and reduced 1,25-dihydroxyvitamin D. Standard treatment with oral calcium and vitamin D aims to maintain serum calcium within the low-normal range whilst avoiding hypercalciuria due to over replacement. However, concerns remain over the presence of hypercalciuria and the associ...

Introduction: Postmortem studies have shown that a fifth parathyroid gland may be present in about 5% of patients with hyperparathyroidism. 1% of parathyroid glands are located in thyroid tissue. There’s a prevalence of 7–10% of thyroid ectopic tissue.Case report: A 53-year-old male, submitted to bilateral nephrectomy due to a Grawitz tumour at the age of 25. Under haemodialysis since then (with a rejected renal transplant in the past), he was ...

Background: The present study is designed to assess the incidence of osteoporotic fractures and the associated risk factors and particularly those used to predict the 10-year fracture risk in FRAX score based on data gathered in general practitioner’s records of rural Greece.Patients and methods: We conducted a retrospective analysis of all patients with osteoporosis presented between October 2013 and December 2014. Data from medical records includi...

Introduction: Functional parathyroid cysts represent an uncommon cause of primary hyperparathyroidism (PHPT) and an even rarer cause of a cervical mass.Case report: A 57-year-old woman was referred to our department following emergency treatment of hypercalcaemic crisis (serum calcium 16.4 mg/dl) with i.v. hydration and zoledronic acid. She was found to have multiple vertebral fractures by plain radiographs one month previously. Despite being diagnosed a...

The aim was to analyse dynamics of PTH secretion in dialysis patients during different period of observation and to determine factors of secondary hyperparathyroidism progression. We examined 92 patients, 52f, 40m; age 47.2±11.4 years; dialysis duration 4.9±3.9 years; mean observational period 8.9±4.3 months (6–24). Serum PTH, 25(OH)D3, osteocalcin (OC), C-terminal telopeptide of type I collagen (β-CTx), alkaline phosphotase (ALP), calcium (Ca), and ph...

Introduction: Systemic mastocytosis (SM) is a rare disorder characterised by clonal proliferation of abnormal mast cells in several tissues, most often skin and bone marrow. Indolent systemic mastocytosis (ISM) is the commonest disease variant in adults, characterised by very low rate of mast cell proliferation. SM has been recognised as a cause of secondary osteoporosis.Objective: To evaluate bone mineral density and fragility fractures in ISM patients....

Introduction: Primary hyperparatyhyroidism (PHPT) is usually caused by single or multiple adenomas and cancer is rare accounting for <1% of all presentations. The presence of certain cytological and architectural features such as adherence to adjacent organs, a solid growth pattern, broad bands of fibrosis, cytological atypia, and an irregular growth contour do not indicate malignancy but are recognised as atypical features encountered more commonly in malignant than benig...

Introduction: Diabetes is often associated with complications and comorbidities. Osteoporosis (OP) is increasingly recognised as a significant comorbidity of type 2 diabetes mellitus (T2DM). The aim of this study was to determine the prevalence of OP in postmenopausal women with T2DM and to assess the association between T2DM and bone mineral density (BMD).Methods: This cross-sectional study was carried out in 50 postmenopausal women with type T2DM and 5...

Introduction: Primary hyperparathyroidism is caused by a single adenoma in 85% of cases. This is why bilateral neck exploration seems to be a very aggressive procedure in a large number of cases. Intraoperative parathyroid hormone (IOPTH) monitoring could be a useful tool in primary hyperparathyroidism surgery allowing a less invasive surgical approach. The aim of our study is to evaluate the possible impact of the measurement of IOPTH during surgery.Met...

Introduction: Hypercalcaemia in acromegaly can be a result of several pathophysiological mechanisms. Multiple endocrine neoplasia type 1 (MEN1) syndrome, mitogenic effect of hyperactivated GH–parathyroid gland axis, i.e. primary hyperparathyroidism and hypercalcaemia mediated by elevated 1,25-dihydroxyvitamin D should be considered.Case report: We describe a case of acromegaly associated with primary hyperparathyroidism. A 52-year-old female was dia...

Background: Primary hyperparathyroidism (PHPT), caused by increased parathyroid hormone (PTH) secretion, leads to generalised disorder of bone metabolism characterised with hypercalcaemia and hypophosphatemia. Causes of PHPT include solitary parathyroid adenoma (80%), primary parathyroid hyperplasia (10–15%), and parathyroid carcinoma (1–2%). Other rare cause is double parathyroid adenomas (DPA) with frequency <1–2%, which can be sporadic or familial. DPA sh...

Introduction: No consensus guideline on the treatment of hypoparathyroidism. Hypoparathyroidism is a disease characterized by hypocalcaemia and insufficient PTH. Conventional therapy includes calcium and active vitamin D supplementation, often in large doses.Case report: A 31-year-old woman presented with hypercalcemia. Serum calcium and phosphorus levels were 10.5 and 2.56 mg/dl respectively. The serum PTH level was increased (1619 pg/ml). The serum 25-...

There is limited data on vitamin D status in patients with learning disabilities. As a group they possess multiple risk factors for vitamin D deficiency including limited access to sunlight, problems with mobility and anticonvulsant use. We reviewed the data for 105 patients with learning disabilities grouped according to the severity of learning disability (profound, severe, moderate, and mild). Data was available on vitamin D and calcium levels, dose of vitamin D3 needed to ...

Primary hyperparathyroidism (PHPT) is frequently diagnosed as an incidental finding of hypercalcemia. Overt bone disease (osteitis fibrosa cystica or brown tumor), with history of pathologic fractures is a rare presentation.A 48-year-old woman was admitted in with pain in the right thigh after a trivial fall. She also complained of generalized weakness and lethargy over the last 2 years. Her medical history mention multiple bone fractures in the last 6 y...

Background: This study prospectively assessed the sensitivity and positive predictive value (PPV) of ultrasound (US), ultrasound-guided fine needle aspiration with PTH measurement in the needle washout (US-FNA) and sestamibi scintigraphy (SS) for the localisation of parathyroid adenomas in patients with primary hyperparathyroidism (pHPT) and features of uniglandular disease.Methods: 51 consecutive patients with pHPT referred for first time surgery with a...

Introduction: Vitamin D deficiency is a common health problem. Vitamin D supplements are used to improve vitamin D status. However, there are few data about what doses to give and how often to give. The aim of this study is to determine the effects of single high dose or daily low dose oral cholecalciferol (vitamin D3) on vitamin D levels and muscle strenght.Methods and design: 60 healthy postmenouposal women who had serum vitamin D levels wer...

A 32-year-old women initially presented with recurrent kidney stones and was found to have nephrocalcinosis. She was found to normocalcaemic but hypercalciuric, with a plasma ionized calcium at upper-limit of normal and a PTH in lower normal range. One year later, during the first trimester of a pregnancy, she presented with severe hypercalcaemia, hypercalciuria and suppression of PTH. Extensive investigations for causes of hypercalcaemia excluded hyperparathyroidism, other en...

Introduction: 17th European Congress of Endocrinology 2015. The skeleton health is reflected by the turnover markers as serum CrossLaps (CL=bone resorption), and serum osteocalcin (OC=bone formation), and by the calcium metabolism parameters (as ionic blood calcium, and, probably, by the 24-h urinary calcium=24-h ca). The peripheral serotonin might have intra-normal levels in patients with osteoporosis but yet represents a part of the complex equation related to the bone homeo...

Introduction: Vitamin D deficiency has been reported to be widely found within the population. Vitamin D deficiency was also found to be prevalent in patients with autoimmune inflammatory diseases such as rheumatoid arthritis and systemic lupus erythematosus. Vitamin D deficiency was reported in almost all patients with acute myocardial infarction in a US multicenter study. Low concentrations of 25-hydroxyvitamin D (25(OH)D) are reported to be an independent risk factor for ca...

Introduction: Primary hyperparathyroidism is currently a frequent disorder. In the past primary hyperparathyroidism was diagnosed late in the course of the disease. With the introduction of routine calcium measurements, as well as the awareness of the disease amongst clinicians, the disorder is frequently recognized in asymptomatic patients. Thus, the clinical profile of primary hyperparathyroidism is changing.Aim: The aim was to describe the clinical pr...

Case: A 50-years-old gentleman underwent cardiac surgery which was complicated by postoperative arrythmias and ischemic stroke. He was found to have raised calcium of 2.9 (2.2–2.6 mmol/l) subsequent to which PTH was tested and found to be raised at 34.2 (1.6–6.9 pmol/l) which increased to 41.2 pmol/l in few days. He was referred for work up and management of primary hyperparathyroidism. An USS of the neck showed 1.5 cm nodule posterior to left thyroid lobe and Sestim...