Endocrine Abstracts

Background: Adherence to anti-osteoporotic therapy is fundamental to prevent harmful consequences including fragility fractures and, in the specific case of denosumab discontinuation, of rebound fractures. Coronavirus disease (Covid-19) lockdowns have impacted on management of osteoporosis, but data about adherence to denosumab and rebound fractures during the Covid-19 pandemic are still lacking. The use of telemedicine is increasingly widespread albeit supported by little evi...

Introduction: The serum calcium/phosphorus (Ca/P) ratio has been proposed to identify patients with primary hyperparathyroidism and chronic hypoparathyroidism (HPT) from healthy subjects. However, other disorders of the Ca-P metabolism might present similar biochemical profile of HPT, such as pseudohypoparathyroidism (PHP), for which the use of Ca/P can be useful. Aim: To test the performance of Ca/P ratio in the diagnosis of PHP in comparison to healthy...

Introduction: Prevalence of vitamin D deficiency is relatively high worldwide, it is associated with poor skeletal health and has recently been related to other extra-skeletal diseases, probably due to its immunomodulatory effects. Detection and treatment of asymptomatic hypovitaminosis D in healthy adult population is especially relevant to attempt to optimize the overall functioning of the human body.Objectives: To assess the percentage of adult health...

The Hypoparathyroidism Symptom Diary (HypoPT-SD) was developed for the daily assessment of key symptoms and impact of HypoPT as reported by patients with chronic HypoPT and includes 13-items: a 7-item Symptom subscale, 4-item Impact subscale, and single-item anxiety and depression scores. The current analysis was undertaken to confirm test-retest reliability and construct validity of HypoPT SD Symptom subscale scores using data collected during two open-label, single-arm studi...

Context: In patients with hypoparathyroidism refractory to conventional treatment, recombinant human (rh)PTH(1-84) or rhPTH(1-34) can be used as second-line therapy and effectively control hypocalcaemia. However, whether rhPTH replacement therapy is safe in the long term is unclear. Our objective was to assess bone effects of long-term therapy of chronic hypoparathyroidism with rhPTH(1-34). Methods: We conducted a monocenter retrospective cross-sectional...

Morphometric-Vertebral Fractures (VFs), which were widely demonstrated to reduce overall-survival and respiratory function in the general population, have been recently reported to be highly prevalent in COVID-19 patients. Emerging data show negative respiratory sequelae at long-term follow-up in COVID-19 survivors. The aim of this study is to evaluate the VFs influence on respiratory function of COVID-19 survivors. We included COVID-19 patients admitted at San Raffaele-Hospit...

Adjuvant treatment for post-menopausal women with early breast cancer (BC) includes aromatase inhibitors (AI), known to decrease bone mineral density (BMD). In this study, we investigate whether denosumab is a valid second option for patients unable to receive standard adjuvant i.v. zoledronic acid (ZA). In total, 212 patients have been evaluated after they did not receive ZA. Of those 194 were included. After evaluation by an endocrinologist, all patients were offered ZA as t...

Background: Among the various ethnicities in the Israeli mosaic, the Ethiopian community is the most recently settled, with an immigration that started less than 40 years ago. Largely young, this 160,000-member community comprises nonetheless about 25,000 persons 50 years or older, virtually all born in Ethiopia. Despite this growing aging population, there is no knowledge regarding osteoporotic fractures in this unique East African ethnic group, not even from data originating...

Background: Several lines of evidence support the view that sarcopenia and osteoporosis are strictly connected. However, the capability of the updated sarcopenia definition to capture the concomitant presence of osteoporosis has been scarcely investigated. Aim: To assess the association between sarcopenia defined according to the revised criteria from the European Working Group on Sarcopenia in Older People (EWGSOP2) and osteoporosis in women with a frag...

Introduction: Tumor-induced osteomalacia is a rare paraneoplastic syndrome characterized by the presence of phosphaturic hormone-secreting mesenchymal tumors - fibroblast growth factor 23 (FGF-23), which causes hypophosphatemia and osteomalacia. These tumors are small, frequently infiltrate the surrounding tissues and are located in the connective or bone tissue. Usually, these tumors are benign, but malignant tumors have also been reported.Case report: ...

Introduction: The revelation of primary hyperparathyroidism by acute pancreatitis is an exceptional situationCase report: We report the case of a 73 years old patient, hypertensive, having the antecedent of an ischemic cardiopathy complicated by cardiac insufficiency and atrial fibrillation, admitted to the emergency for an abdominal pain evolving since 10 days, associated with vomiting, the initial biological assessment showed lipasemia at 2543IU/l, kid...

Background: The treatment goal in primary hyperparathyroidism (PHPT) is the achievement of biochemical control and prevention of target organ complications. Parathyroidectomy is the current recommended intervention to cure the disease. However, Cinacalcet is an alternative medical treatment for subgroup of patients in whom surgery is deemed inappropriate, those with recurrent disease, and as bridging therapy for delayed operation particularly in recent COVID pandemic. Current ...

Introduction: Patients with permanent hypoparathyroidism receiving conventional treatment have increased risk of subcapsular cataracts, basal ganglia calcifications, urolithiasis and renal insufficiency. The aim of this study was to assess the prevalence and the interfering factors of these complications in patients with permanent hypoparathyroidism.Methods: We conducted a cross-sectional study including 53 patients with permanent hyperparathyroidism. Bi...

Introduction: Patients with permanent hypoparathyroidism suffer from multiple complaints and are exposed to long-term complications that compromise their well-being. The aim of our study was to assess the quality of life in patients with permanent hypoparathyroidism receiving conventional vitaminocalcic therapy.Methods: We conducted a cross-sectional case-control study including 53 patients with permanent hypoparathyroidism and 53 age-sex-body mass index...

Background: Acromegaly is characterized by increased prevalence of fragility vertebral fractures. Nonetheless, there are no clear recommendations for prevention of acromegalic osteopathy. Both bone mineral density (BMD) and trabecular bone score (TBS) lack clear evidence as prognostic factors for vertebral fractures (VF).Material and Methods: We performed an observational study on 31 acromegalic patients recruited prospectively. They were tested for alka...

The calcium-sensing receptor (CaR) is the key controller of parathyroid hormone (PTH) secretion and extracellular calcium homeostasis. Hyperphosphataemia increases PTH secretion and is associated with secondary hyperparathyroidism (SHPT). We reported recently that inorganic phosphate (Pi), and sulphate, can attenuate CaR activity directly (in CaR-transfected HEK-293 cells) and Pi can increase PTH secretion rapidly from human and murine parathyroid cells. To investigate this fu...

Background: Osteogenesis Imperfecta (OI) is commonly defined as ‘brittle bones’ disease, but there are also more characteristics like blue sclerae, hearing loss, dental problems, ligamentous laxity and a short stature. Easy bruising is also a very common feature and there are multiple case reports on haemorrhagic events in OI. Larger population studies on bleeding tendency in OI are very sparse, while other connective tissue disorders with easy bruising have much mor...

Background: X-Linked Hypophosphataemia (XLH) is a rare, progressive, hereditary phosphate wasting disorder characterised by a pathological increase in fibroblast growth factor 23 concentration/activity. Despite XLH being increasingly recognised as a chronic progressive disease, there are few data documenting its natural history or impact of treatment. The International XLH Registry will collect data to characterise burden of disease, disease progression and long-term outcomes....

Background: Male osteoporosis is undermanaged. The characteristics of men referring to health care system for bone evaluation remain partially unknown.Aim: To characterize from real-life data male patients seeking the first bone health evaluation at a tertiary academic medical center, referral for both andrological and bone diseases, over a 13-year observation period.Methods: Retrospective, cross-sectional study, including adult me...

In Europe, rhPTH(1-84) is an approved adjunctive treatment for adults with chronic hypoparathyroidism that cannot be adequately controlled with conventional therapy. Here we present data from the longest rhPTH(1-84)-treated study cohort of patients with hypoparathyroidism. In a single-centre, single-arm, phase 4 study (NCT02910466), long-term rhPTH(1-84) treatment (25, 50, 75, or 100 μg/day subcutaneously) was evaluated in adults with chronic hypoparathyroidism who mainta...

Chronic hypoparathyroidism is a rare mineral homeostasis disorder managed by conventional therapy (oral calcium and active vitamin D), alone or with adjunctive rhPTH(1-84). Chronic hypoparathyroidism is associated with considerable symptom burden, which can interfere with daily living. We report results from a web-based, cross-sectional survey conducted among adults with chronic hypoparathyroidism. The objectives were to quantify the impact on overall life interference of (1) ...

A 65 year old patient who was hospitalised for a reactive arthritis of the knee due to Rickettsia infection, presented an asymptomatic persistant chronic hypocalcemia and hyperphosphoremia. In her medical history, we noted a hypertension treated with amlodipine and bisoprolol, syndrome of sleep apnoea, acquired lumbar spinal canal stenosis and sequelae of poliomyelitis acquired at 10 years of age in Congo, her place of origin. According to her blood test results, total calcium...

Background: Clinical and molecular findings have shown that parathyroid hormone (PTH) affects the heart and vasculature through downstream actions of G protein-coupled receptors in the myocardium and endothelial cells. Furthermore, the endothelium is a recognised target tissue of PTH and there is an increasing body of evidence that PTH affects functional and structural properties of arteries. Patients with chronic post-surgical hypoparathyroidism (hypoPT) have higher incidence...

Introduction: Tumor-induced osteomalacia (TIO) is a paraneoplastic syndrome due to an overproduction of fibroblast growth factor 23 (FGF23) by small and benign mesenchimal tumors. FGF23 increase causes hypophosphatemia, osteomalacia and muscle weakness. TIO is usually cured by tumour resection, but neoplasms may be unidentifiable/unresectable or the patient may refuse surgery. In these cases, medical treatment with high doses of oral phosphate and calcitriol is mandatory, even...

CaSR-autoantibodies may cause auto-immune hypercalcemia through either simple blocking or biased properties. The phenotype of this rare disease is most often acquired hypocalciuric hypercalcemia (AAH) (Minanbres JCEM 2020, Makita JCI insight 2022), but sometimes hyperparathyroidism (Pelletier-Morel Intern Med 2008), in elderly. Gender, auto-immune context is variable. Blood calcium may fluctuate, and acute exacerbations may be successfully treated with predni...

Introduction: Parathyroidectomy is the only curative treatment for primary hyperparathyroidism (pHPT) and has been traditionally performed through bilateral neck exploration (BNE). However, with the use of intraoperative parathyroid hormone (IOPTH) assay along with preoperative localization exams, minimally invasive surgery can be performed with good surgical success rate.Aim: To evaluate the usefulness of IOPTH assay in guiding adequate parathyroidectom...

Background: Data on the effects of long term glucocorticoid (GC) treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) are controversial. Objectives: To evaluate BMD and vitamin D status in adolescents and young adults with CAH in comparison with healthy controls.Methods: 32 patients with classical CAH (13 males; mean of age 26.0±7.1 years (14.0–37.3) were compared to 32 healthy con...

Background: Primary hyperparathyroidism (PHPT) is a common endocrine disorder accompanied by high cytokines and low total 25-hydroxyvitamin D [25(OH)D]. An inflammatory cytokine, monocyte chemoattractant protein-1 (MCP-1), is found to be higher in people with elevated parathyroid hormone (PTH), unlike other cytokines (1). Also, a rise in MCP-1 in response to high PTH is associated with bone loss (2). Parathyroidectomy (PTX) is the only cure for patients with PHPT. Whether the ...

Background: BMD measurement of a non-dominant arm is not routinely performed during dual-X-ray-absorptiometry (DXA) test. While 1/3 radius measurement is recommended under certain circumstances, ultra-distal compartment is not used for osteoporosis diagnosis or fracture risk assessment. Aim: To evaluate the correlation of ultra-distal radius (UDR) BMD to prevalent fractures, fracture risk predicted by FRAX and diagnosis of osteoporosis by traditional sit...

Introduction: Familial and hereditary forms of primary hyperparathyroidism (PHPT) represent a small minority of all patients with PHPT (5 – 10%). The surgical approach is different in such cases than in sporadic PHPT. Hereditary PHPT may be syndromic (multiple endocrine neoplasia: MEN – type 1, 2A or 4 and others) or nonsyndromic (familial isolated PHPT). The aim of the study was to identify and describe hereditary and familial forms of PHPT in patients referred to p...

Primary hyperparathyroidism (PHPT) is a common endocrine disease mainly caused by a single parathyroid adenoma. Although the localization of the parathyroid adenoma is not a surgical criterion for parathyroidectomy (PTX), this is known to increase the cure rate and reduce the complication rate. Neck ultrasound and MIBI-scintigraphy are the first-line techniques to detect hyperfunctioning parathyroid tissue, however, they have some limitations including the operator-dependent s...

Conventional therapy with oral calcium supplements and activated vitamin D is the most diffuse and available therapy for chronic hypoparathyroidism (HypoPT). This treatment does not replace the lack of PTH and is associated with renal complications. We report the results of a case control study with a prospective design which included 178 adult patients with differentiated thyroid cancer treated with total thyroidectomy with a follow-up longer that 3 years after surgery: 89 wi...

X-linked hypophosphatemic rickets (XLH) is associated with mutations in PHEX, upregulation of FGF23, leading to hypophosphatemia, abnormal bone development and short stature. H-MAB to FGF23, Burosumab, is the new therapy for XLH. Among PHEX mutations, c.1586+6T >C, partially destroying the splice-site, is presumably associated to a mild phenotype not described so far. We describe two siblings bearing the PHEX c.1586+6T >C variant. Cas...

Introduction: Hypoparathyroidism (HypoPT) is a rare endocrine disease which is characterized by hypocalcaemia and undetectable or inappropriately low serum parathyroid hormone (PTH). Post-surgical HypoPT (PS-HypoPT) is the most common cause, caused by accidental parathyroid removal/injury during neck surgery. Conventional therapy with calcium and vitamin D analogues does not restore calcium homeostasis and patients with chronic PS-HypoPT complain with several complications. Fr...

Background: There is growing awareness of skeletal impairment in individuals with Klinefelter syndrome (KS), involving both quantitative and qualitative alteration of the bone as well as an increased prevalence of vertebral fractures (VFs). Beyond hypogonadism, considerable evidence suggests that other factors may be responsible for the skeletal fragility observed in these patients. Abnormal body composition is a common finding in KS subjects, characterized by an unfavourable ...

Parathyroid carcinomas (PCas) are rare endocrine malignant neoplasia characterized by an abnormal PTH secretion and, consequently, severe and uncontrolled hypercalcemia. Clinically, the preoperative diagnosis can be misleading, because PCas share some molecular and clinical similarities with benign lesions and are often indolent. The histological diagnosis of carcinoma is achieved based on the presence of mitotic nuclear figures, capsular invasion, parenchyma infiltration, vas...

Typical symptomatology of primary hyperparathyroidism (PNP) includes bone lesions and renal dysfunction in the form of recurrent nephrolithiasis but the symptoms of hypercalcemia may mimic other conditions, including cardiovascular diseases. The exact frequency of cardiac symptoms is not known. The study included 45 adult patients diagnosed with PNP, over 18 years of age, who were qualified for ptx. Laboratory tests included the determination of serum PTH, Ca, Pi and cardiac E...

Background: Vitamin D supplementation is an integral component of treating patients with osteoporosis/osteopenia. Data have shown that monthly vitamin D supplementation is not inferior to daily regarding target vitamin D levels. Moreover, it has been argued that monthly supplementation might increase adherence. Patients’ adherence and satisfaction with daily versus monthly vitamin D supplementation have been hardly investigated. The current study evaluated osteopenic/oste...

Despite conventional treatment with oral calcium and active vitamin D, patients with chronic hypoparathyroidism (cHypoPT) can remain not adequately controlled (NAC) and have abnormal biochemistry, disease complications, or symptoms impacting quality of life. A systematic literature review (SLR) was conducted to evaluate the clinical burden for patients with cHypoPT, with an emphasis on patients with NAC disease. This abstract focuses on data related to renal and cardiovascular...

Introduction and aims: Primary Hyperparathyroidism (PHPT) is a common endocrine disease associated with hypercalcemia and elevated or inappropriately normal serum levels of PTH. Among PHPT manifestations, neuropsychological symptoms have been described, including depression, anxiety, loss of memory, impaired cognition, with a wide range (3-50%) depending on the study population. Neuropsychological/ccognitive symptoms in patients with PHPT have been evaluated as part of quality...

Background: Skeletal fragility is an important clinical issue in women with early-stage breast cancer and men with non-metastatic prostate cancer under hormonal hormone deprivation therapies (HDTs). Vertebral fractures (VFs) have been reported in a remarkable number of subjects exposed to HDT especially when the diagnosis of fractures is performed by a radiological and morphometric approach. Notably, prediction of fractures in this clinical setting is a challenge and determina...

Osteoporosis is a chronic condition requiring long-term treatment; sequential treatment regimens with different agents represents an option aimed to increase bone mineral density (BMD) and then to maintain it. The loss of BMD occurring after withdrawal of teriparatide (TPT) can be prevented by bisphosphonates (BPs). Among BPs, data about the efficacy of zoledronic acid (ZOL) after TPT treatment are scanty. Here, we contribute to this topic providing data derived from the real-...

Background: fragility fractures (FX) occur frequently after lung transplantation (TX), with a higher rate (15-20%) in the first two years, which decreases subsequently. Patients affected from cystic fibrosis (CF) seem to have a lower FX risk in the first two years after TX as compared with those affected with other lung diseases (nCF). The aim of our study is to evaluate and compare the long-term skeletal outcome in CF and nCF patients after TX.Methods: ...

Objective: Parathyroidectomy (PTx) improves quality of life (QoL) in patients with primary hyperparathyroidism (PHPT). Whether this effect is modified according to the patients’ age is unknown. The aim of this study was to evaluate the impact of age on the effect of PTx on QoL and frailty in patients with PHPT, six months post-PTx. Methods: This was a prospective cohort study, including patients with PHPT, admitted from January 2016 to December 2019...

Background: Testosterone (T) is essential for bone health during all ages, helping to achieve a proper peak bone mass and, later, to maintain bone density and strength. Guidelines on management of male osteoporosis recommend testosterone replacement in young-adult hypogonadal to prevent bone loss and anti-resorbitive drugs in case of high fracture risk, but the role of T replacement therapy (TRT) alone in subjects with late onset hypogonadism is still the object of an intense ...

Introduction: Hypoparathyroidism (hypoPTH) is one of the most feared iatrogenic complications of the surgical treatment for thyroid cancer (TC). Despite supplementation with calcium salts and calcitriol, hypoPTH seems to be associated with a negative impact on quality of life (QoL), which has not been evaluated in the Portuguese patients.Objectives: To evaluate the impact of hypoPTH on the QoL of Portuguese patients with TC and its correlation with serum...

Introduction: Hypoparathyroidism Bone Score (TBS) has been associated with fragility fractures in post-menopausal women. Estrogen-receptor positive breast cancer is usually treated with aromatase inhibitors (AIs), with international guidelines recommending initial bone density (BMD) evaluation, since this therapy is associated with high rates of fragility fractures. Each Country has different thresholds of intervention to recommend pharmacologic treatment for fracture preventi...

Objective: Osteoporosis and vertebral fractures (VFs) are frequently observed in HIV-infected men. Whereas bisphosphonates seem effective on bone mineral density (BMD) maintenance in HIV-men, data on VFs are lacking. We aimed to evaluate the long-term efficacy of bisphosphonates on VFs in HIV-infected men.Design: Real-life longitudinal retrospective study on 118 consecutive HIV-infected males (median age at inclusion 53 years). Median time between first ...

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue nonspecific alkaline phosphatase (TNSALP).Methods: Baseline/pretreatment data from the Global HPP Registry were analyzed to compare HPP disease burden between adults (≥18 years of age) with skeletal manifestations (history of rickets, biopsy-proven osteomalacia, recurrent or poorly healing fractures/pseudofractures, etc; Skeletal group) ...

Background: Osteoporosis is characterized by reduced bone mass and a compromised bone microstructure, leading to increased bone fragility and fracture risk. Currently, the gold standard for diagnosis is the bone mineral density (BMD) measurement by DXA. However, approximately half of fragility fractures occurs in the context of normal or slightly decreased BMD values.Protocol: In this cross-sectional study, we performed an artificial intelligence (AI)-ba...

Introduction: Obesity is a pathological condition characterized by a low-grade systemic inflammatory state that predisposes to the onset of some diseases, such as hypertension, diabetes, and hyperlipidemia. Also, obesity can impact bone metabolism, but its effects are controversial.Aims: This observational study aimed to evaluate and correlate the bone mass with the lipidic profile, adipocytokines, glucose metabolism, hepatic function and purine metaboli...

Muscle symptoms are the most common side effects of statin therapy and reasons for its discontinuation. Low serum vitamin D may contribute to statin-associated muscle symptoms (SAMS). The aim was to investigate the relationship between occurrence of SAMS and level of vitamin D (D), determine predictors of SAMS.Methods: 84 statin-treated patients were included in the study: 41 with SAMS (intolerant to ≥2 statins) and 43 patients without SAMS. We use...

Background: Normocalcaemic primary hyperparathyroidism (NPHPT) can be considered as an early biochemical manifestation of hypercalcaemic primary hyperparathyroidism (PHPT). Vitamin D repletion and exclusion of other conditions is recommended before diagnosing NPHPT. It is often challenging to distinguish Vitamin D deficiency associated secondary hyperparathyroidism (SHPT) from NPHPT and the two conditions may coexist. A parathyroid function (PF) index [(Parathyroid hormone (PT...

A 26-year-old Caucasian female presented at 14 weeks gestation with a 6-week history of lethargy, nausea and vomiting during her first pregnancy. Her adjusted Calcium was 4.12 mmol/l and parathyroid hormone (PTH) 26 pmol/l, consistent with possible primary hyperparathyroidism. She was previously well apart from occasional migraines. There was no known history of familial hypercalcaemia or MEN. Other biochemistry results revealed hypokalaemia of 3.2 mmol/l, low vitamin D at 16 ...

Introduction: Addison disease is associated with high risk of fractures and low bone mineral density. Causes are complex, including supraphysiologic glucocorticoid replacement therapy and concomitant autoimmune disorders. The aim of our study is to assess the influence of glucorticoid replacement therapy on bone mineral density in patients with Addison disease.Patients and methods: Descriptive and analytical cross- sectional study including 50 patients w...

Introduction: Thalassaemia syndromes are a group of inherited haemolytic disorders determining chronic anaemia, iron overload and organ damage (through the production of ROS), necessitating of iron chelation therapy. Nowadays, there is scant knowledge on hypercalciuria in thalassaemic Western patients. Therefore, aim of our study was evaluating the prevalence of hypercalciuria and identifying risk factors and clinical consequences associated with its development.<p class="...

Background: Parathyroid lesion aspiration as a preoperative adenoma localization tool is a matter of controversy. Concerns are being raised regarding both the immediate (hematoma, infection, alterations on a subsequent histologic preparate) and long term (seeding) safety.Objective: To evaluate safety and efficacy of parathyroid fine-needle aspiration (FNA) with parathyroid hormone (PTH) washout as a localization of parathyroid lesions in patients with pr...

Tumor-induced osteomalacia (TIO) or ‘oncogenic osteomalacia’ is a rare paraneoplastic disorder, usually resulting from Fibroblast Growth Factor 23 (FGF23) oversecretion by a benign small ‘phosphaturic mesenchymal tumor’, causing hypophosphatemia and reduced 1,25-dihydroxyvitamin D synthesis. Calcium and parathyroid hormone (PTH) levels are usually normal, but secondary/tertiary hyperparathyroidism has been reported in up to 5% of the cases, mainly due to 1,...

Introduction: in X-linked hypophosfatemic rickets (XLH) mutations of PHEX lead to elevated FGF-23 levels. Phosphate salts and calcitriol represented the only treatment option. Tertiary hyperparathyroidism (THPT) is a complication of XLH worsening the clinical features and constituting a contraindication to conventional treatment. Burosumab, a monoclonal antibody anti-FGF23, was recently approved in XLH. No data about Burosumab treatment in patients with XLH and THPT are availa...

Background: Extreme hypercalcemia is an endocrine emergency. Given parathyroid hormone (PTH)-dependent cause, carcinoma should be suspected as a possible etiology. The prevalence of parathyroid carcinoma among patients presenting with extreme hypercalcemia is not well elucidated.Aim: Establish proportion of patients with parathyroid carcinoma among those presenting with severe hypercalcemia and compare clinical and laboratory features between benign and ...

X-linked hypophosphatemia is a rare inherited disorder, yet the most common among the inherited causes of rickets. It is caused by different mutations in the PHEX gene leading to an impaired regulation of fibroblast growth factor 23 (FGF 23) and renal phosphate wasting. Patients with XLH show multiple musculoskeletal complications which usually can lead to early diagnosis in childhood. Nevertheless XLH is a lifelong disease, with multisystemic manifestations, including entheso...

Context: Normocalcemic hyperparathyroidism (NHPT) is considered as an earlier or milder phenotype compared to traditional primary hyperparathyroidism (PHPT). To make a correct diagnosis, secondary hyperparathyroidism due to low calcium intake must be excluded. Whether calcium intake might affect presentation of PHPT vs NHPT has never been addressed consistently.Objective: To describe patients with a diagnosis of NHPT or PHPT in relation to their calcium ...

Background: The importance of vitamin D supplementation in pregnancy is well known. Hypovitaminosis D is associated with adverse maternal and foetal outcomes such as pre-eclampsia, gestational diabetes mellitus, bacterial vaginosis, increased incidence of caesarean section delivery, intra-uterine growth restriction and reduced bone and muscle mass in childhood. The recommendations for vitamin D supplementation vary widely, with NICE guidelines suggesting a daily replacement do...

Introduction: Sex steroid hormones play a key role in bone health, however medical therapies for gender dysphoria lead to hormonal changes.Purpose: Understanding the change in bone mass and body composition is extremely important, because this treatment will be carried out over a long period of timeMethods: In a prospective study, we included 19 transgender men (female-to-male trans persons) before treatment and after 1 year of tre...

Introduction: Various methods to quantify calcified coronary plaque have been used in common clinical practice in the past few decades to compliment cardiovascular risk assessment. The estimation of calcium load in other organs and conditions has been at best semi-quantitative. Patients with long-standing hypoparathyroidism are known to suffer with nephrocalcinosis and basal ganglia calcification. We attempted to quantify end-organ calcium burden in a series of patients with v...

Case History: A 57 year old male, who was known to have primary hyperparathyroidism was admitted to hospital due to hypercalcaemia on routine blood tests (adjusted S. calcium- 3.44 mmol/l.) He had no symptoms due to hypercalcaemia. This was his 5th admission since the diagnosis 18 months ago, each admission requiring treatment with IV fluids and IV bisphosphonates. SESTAMIBI and ultrasound scans of the thyroid and parathyroids had previously localised a likely right inferior p...

Medullary thyroid cancer (MTC) is a rare malignancy of the thyroid gland. MTCs originate from thyroid-C cells and account for 2-4% of all thyroid neoplasms. Originating from thyroid-C cells, the main secretory product of MTCs is calcitonin, used as sensitive and specific MTC-biomarker. Calcitonin is a hormone known to participate in calcium-bone metabolism suppressing bone-resorption by inhibiting the activity of osteoclasts, and inhibiting the kidney reabsorption of calcium a...

We conducted a survey during the first pandemic wave of coronavirus disease 2019 (COVID-19) on a large group of osteoporotic patients to evaluate the general conditions of osteoporotic patients and the impact of the pandemic on the management of osteoporosis, finding high compliance to treatments and low COVID-19 lethality. In a telephone survey conducted from April to May 2020, patients from the Osteoporosis Center, Clinic of Endocrinology and Metabolic Diseases of Umberto I ...