Endocrine Abstracts

Introduction: Vitamin D deficiency is a prevalent condition worldwide. Low serum 25(OH)D levels are associated with several diseases, being age and obesity strongly related to hypovitaminosis D. In addition, several genetic variants have also been associated with lower and/or higher 25(OH)D levels.Objective: We aimed to assess the potential influence of age, BMI, waist circumference and genetic variants on the efficacy of 12-month treatment with calcifed...

Background: Hyperparathyroidism jaw-tumor syndrome (HPT-JT) is a rare and underdiagnosed cause of familial primary hyperparathyroidism (incidence <1/1000000). It is caused by a pathogenic variant in the CDC73 (or HRPT2) gene that encodes parafibromin. Patients with HPT-JT have a 15–20% risk of developing parathyroid carcinoma. Other related conditions are jaw tumors in 30% of cases, kidney abnormalities in 15% of cases, and uterine tumors in 50% of c...

Introduction: Polymorphisms of genes involved in the growth process are an important cause of growth hormone deficiency (isolated form). Isolated growth hormone deficiency can be caused by genetic defects in about 10% of patients, in 34% of cases it is a consequence of familial pathology, and 4% are sporadic cases. The nuclear receptor for vitamin D mediates most of the biological functions of this vitamin. It belongs to the steroid hormone receptor family, the gene for which ...

Objective: This study aimed to investigate the diagnostic performance of 18F-choline PET/CT in patients with negative or inconclusive results of 99mTc-sestamibi SPECT/CT in locating hyperfunctioning parathyroid tissue in primary hyperparathyroidism patients.Methods: We conducted a retrospective study involving patients who were operated on due to primary hyperparathyroidism from April 2019 to March 2022. The analysis focused on pati...

Introduction: Secondary hyperparathyroidism is the main disorder of mineral and bone metabolism associated with chronic kidney disease. This disorder is characterized by hypersecretion of parathyroid hormone (PTH). Given the high cost and unavailability of calcimimetics, surgery remains a good alternative. In the immediate postoperative period after parathyroidectomy, hypocalcemia is common and close monitoring is critical.Objective: The aim of our work ...

Background: Primary hyperparathyroidism (PHPT) during pregnancy is rare and often unrecognized. Most of these patients are asymptomatic or have nonspecific complaints but some of them &scy;an present with classical symptoms of PHPT and even with severe complications of pregnancy as preeclampsia, miscarriage, preterm labor etc. The incidence of maternal complications is approximately 67%, poor fetal outcomes, including stillbirth and intrauterine growth retardation may reach 80...

Introduction: The interaction between obesity and bone metabolism is complex and not fully understood. Historically, higher body weight was considered to be protective against osteoporosis. This association has affected clinical practice: body mass index (BMI) is one of the variables included in Fracture Risk Assessment Tool (FRAX), where a higher BMI leads to a lower fracture risk. Despite this association between bone mineral density (BMD) and body weight, it is not clear wh...

Background: The association between thyroid cancer and skeletal outcomes has not been thoroughly investigated. We aimed to investigate the risk of osteoporotic fractures in patients with thyroid cancer compared with a matched control group.Methods: This retrospective cohort study included 2,514 patients with thyroid cancer and 75,420 matched controls from the Korean National Health Insurance Service-National Sample Cohort (NHIS-NSC, 2006-2019). Rates of ...

Background: Osteoporosis is a disease usually associated with postmenopausal women and men over sixty. Little is known about the long-term course of early-onset osteoporosis and the factors affecting fracture risk and bone density(T-score).Objectives: Factors that cause osteoporosis or aggravate its progression in younger patients are less studied than in older patients. Data are lacking on treatment choice, adherence and effectiveness. Our study group p...

Introduction: Primary hyperparathyroidism (PHPT) represents a prevalent medical condition frequently characterized by asymptomatic manifestations. The etiology of PHPT is predominantly attributed to parathyroid adenomas, accounting for 85% of cases, with 10% demonstrating ectopic localization. The prevalence of asymptomatic presentation poses distinctive challenges in both diagnostic and therapeutic realms, necessitating a nuanced approach to effectively address the complexiti...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disease secondary to autonomous hypersecretion of parathyroid hormone (PTH) by one or more parathyroid glands. It is a predominantly female disease and most often asymptomatic. Its positive diagnosis is purely biological. Its curative treatment is surgical.Patients & methods: This retrospective descriptive study encompasses 83 patients who were hospitalized and longitudinally moni...

Background: Parathyroid carcinoma is a rare cause of primary hyperparathyroidism. There’s an overlap between benign and malignant disease clinical presentation, but the presence of very high calcium levels (>14 mg/dl), markedly raised levels of PTH, palpable neck mass or severe bone/kidney disease is more common in parathyroid carcinoma. We present a case of primary hyperparathyroidism due to a parathyroid carcinoma, with unusual presentation.Ca...

Subtotal parathyroidectomy (PTX) is considered the surgery of choice for patients with MEN1, because it optimally balances the risk of recurrence/persistence against surgical complications. Notably, MEN1 patients negative at the genetic test (MEN1-negative) seem to exhibit distinct clinical characteristics compared to their mutated counterparts (MEN1-positive). Therefore, we hypothesized that these patients may also have a different surgical outcome. The obje...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrinopathy caused by inappropriate PTH secretion by the parathyroid glands, which leads to alterations in phosphocalcic metabolism. The aim of our study is to determine the prevalence of complications of PHPT.Materials and Methods: Retrospective descriptive study of 83 patients with primary hyperparathyroidism collected over a period of 07 years (between 2015 and 2022) in the endocrinology ...

Introduction: Vitamin D plays an important role in the regulation of the mother-placenta-fetus systemensuring normal growth, weight and development of the fetus, reducing the risks of gestational diabetes mellitus, eclampsia and preterm labor. There is insufficient data in the literature on the vitamin D metabolic pathways in pregnant women, and the available results require confirmation using more accurate methods of determination.Objective: To study of...

Introduction: Osteoporosis is a skeletal disease characterized by decreased bone mineral density and destruction of the microarchitecture of bone structure. This study was conducted to determine the relationship between bone mineral density, vitamin D level and sleep quality in female patients with osteoporosis.Material and Method: This descriptive correlational study included a total of 318 women diagnosed with osteoporosis. The data were collected usin...

Background: Primary hyperparathyroidism (PHPT) reduces bone mineral density (BMD), leading to secondary osteoporosis. While parathyroidectomy has been reported to increase BMD, the efficacy of medical therapy for PHPT-induced osteoporosis after parathyroidectomy remains uncertain. Herein, we report two PHPT cases with osteoporosis, where romosozumab, an anti-sclerostin monoclonal antibody, increased BMDs after parathyroidectomy.Case 1: A 67-year-old woma...

Introduction: Parathyroid adenomas with marked hypercalcemia need in most of cases surgical treatment. Calcimimetic treatment is usually a bridging therapy to correct hypercalcemia (in combination with other approaches, e.q. bisphosphonates). We describe case of conservative treatment in a patient in whom surgical therapy was not possible due to severe acute pancreatitis and where a high dose of calcimimetics led to clinical, laboratory and graphic remission with the possibili...

Introduction: Autosomal dominant hypocalcemia (ADH) type 1 is a rare form of hypoparathyroidism, caused by heterozygous, inherited or de novo, activating mutations in the CASR. CASR is also expressed in the kidney and activating mutations lead to decreased calcium renal absorption. Activating mutations in the CasR, inhibits salt transport, leading to Bartteŕs syndrome (BS) type V which can co-exist with ADH1. Chronic myeloid leukemia (Cml) is characterized by the...

Introduction: Hyperparathyroidism is the clinical and biological manifestation of excessive and inappropriate parathyroid hormone (PTH) production. It is the third most common endocrinopathy. It is often secondary to a single adenoma (80%). Occasionally, it may be a multi-glandular disease (15-18%). Treatment is surgical.Objective: the aim is to evaluate therapeutic results after surgery for primary hyperparathyroidism.Method: This...

Introduction: Hyperparathyroidism is a pathological condition characterized by the excessive secretion of parathyroid hormone (PTH), resulting from the hyperactivity of one or more parathyroid glands. This condition can manifest as primary, secondary, or tertiary hyperparathyroidism. However, determining the primary or tertiary origin of hyperparathyroidism can pose challenges in certain complex situations. In this report, we present a clinical case where identifying the prima...

Background and Aims: Hypercalcemia in patients with advanced chronic liver disease (CLD) without hepatic neoplasia is a rarely reported and poorly understood entity. CLD is usually associated with hypocalcaemia because of hypoalbuminemia. Hypercalcemia on the other hand is extremely rare and needs meticulous ruling out of other causes.Methods: Here a case of 55-year-old male with hypercalcemia who had chronic liver disease in the absence of malignancy, i...

Introduction: The relationship between early puberty and abnormal bone health has garnered significant research attention, with varying outcomes. Objectives: This review systematically examines studies up to March 2023 to determine whether early puberty is associated with abnormal bone health, specifically low bone mineral density (BMD), osteopenia, and osteoporosis. We analyze and summarize research articles (n=25) to elucidate the potential li...

Introduction: Diffuse sclerosing osteomyelitis (DSO) of the jaw is a chronic and rare condition that can present with recurrent and severe jaw pain and mandibular swelling. The treatment of this condition can often be quite challenging. We present a patient with mandibular DSO who had significant improvement in jaw pain with denosumab injections. Clinical Case: A 23-year-old female presented with left mandible pain for 4 years. Her symptoms started after...

Introduction: Aromatase inhibitors, such as Letrozole or Exemestane, are often used as adjuvant treatment for post-menopausal breast cancer. However, they are known to reduce bone mineral density (BMD). Furthermore, breast cancer patients often undergo chemotherapy with drugs associated to BMD loss by themselves. Therefore, patients treated for breast cancer are subject to a considerable risk of BMD loss, and to alleviate this the treatments are normally combined with an anti-...

Background: The use of immune checkpoint inhibitors (ICIs) has been lately established as a promising and effective treatment in several solid malignancies. Endocrine-related adverse effects are common, however their effects on bone metabolism is unknown.Methods: We retrospectively investigated the prevalence of bone-related complications in patients undergoing or completing treatment with ICIs. Epidemiological and clinical data from the medical files of...

The Trabecular Bone Score (TBS) has recently been developed through the grayscale textural analysis of Dual-Energy X-ray Absorptiometry (DXA) images. Due to its capability to evaluate the microarchitectural texture of bone, TBS proves valuable in the assessment of bone quality. While the clinical relevance of TBS has been partially confirmed in relation to hormonal disorders, there is currently a lack of precise data regarding its application during specific phases of treatmen...

We conducted a cross-sectional analysis on a sample of postmenopausal women (n=88, aged 66&pm;5 years) attending the osteoporosis outpatient service of our University Hospital between September and October 2023. All patients underwent physical examination and Dual Energy X-ray Absorptiometry (GE HealthCare-Lunar) scans at lumbar spine and hip level. 10-years risk of major osteoporotic fracture was assessed with the FRAX® algorithm. Level of physical activity was ...

Introduction: Autosomal Dominant Hypocalcemia (ADH) presents with low calcium and high phosphorus levels due to hypoparathyroidism. It is categorized into type 1, resulting from gain-of-function mutations in the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in GNA11, a key mediator in CASR signaling. Our contribution involves reporting a rare case of pediatric ADH 2.Case presentation: We present the case of a 9-year-old boy ...

PTH increases calcium uptake from bone, tubular calcium reabsorption and renal phosphate excretion, and by stimulating 1α-OH vitamin D hydroxylase in the kidney increases production of 1,25(OH)2D.Aim: To differentiate and characterize the various diseases associated with an increase in PTH in the material of the Endocrinology Clinic, Sofiamed University Hospital for 3 years.Material: 167 patients with elevated PTH were examine...

We conducted a longitudinal study on 95 children presented to pediatric clinic with short stature. Children were classified to low IGF1 (IGF1SDS <-1) (n=25) and normal IGF1 (IGF1SDS >-1) (n=70) and treated with human GH (0.03: 0.05 mg/kg/day) for 2 years. Anthropometrics data (HtSDS, difference from mid-parental height SDS (MPHSD), BMISDS, bone age and IGF1 level were studied for 2 years.Results: At presentation, the age, bone a...

Tumour-Induced Osteomalacia (TIO) is a rare paraneoplastic syndrome that is often underdiagnosed given its non-specific manifestations. A 64-year-old Chinese male presented with chest discomfort and generalized weakness. He was treated for symptomatic iron deficiency anaemia, with two units of blood transfusion given his low haemoglobin of 6.1 g/dl; no intravenous iron replacement was given. Concurrently, laboratory results revealed a low phosphate level of 0.4 mmol/l [referen...

Introduction: Traditionally, obesity is thought to exert a positive impact on bone mineral density (BMD). However, the effect of adipose tissue on bone health is under investigation. Trabecular bone score (TBS) is a measure of bone texture, providing information on bone quality and microarchitecture, independently of BMD. Lower values of TBS indicate a worsening in bone quality and amplify fracture risk. Herein, we aimed to investigate the association of body composition and b...

Denosumab is a monoclonal antibody against RANKL used in the treatment of postmenopausal osteoporosis. RANK/RANKL/OPG cycle is effective on both immune system and osteoporosis. Some RANK mutations are associated with hypogammaglobulinaemia. There are studies suggesting that the RANK/RANKL pathway may mediate the development of insulin resistance and hepatosteatosis. However, the clinical effects of denosumab on inflammation and immunity are not well known. In this study, we ai...

Background: An acute fragility fracture is considered a ’bone attack,’ necessitating prompt treatment of osteoporosis. Standard clinical practice involves assessing the patient’s clinical status, comorbidities, and secondary causes of osteoporosis, influencing the choice between osteoanabolic or antiresorptive therapy. Normocalcemic hyperparathyroidism is common among fragility fracture patients. While it is commonly associated with vitamin D deficiency and chro...

Introduction: Klinefelter syndrome has been associated with decreased bone density most likely due to testosterone deficiency. Furthermore, a negative effect of long-lasting follicle-stimulating hormone (FSH) excess (starting from puberty) on trabecular bone has been suggested. Other endocrine mechanisms, such as global Leydig cell dysfunction, higher oestradiol levels, altered 25-OH vitamin D levels, and genetic aspects related to the supernumerary X chromosome might be invol...

Background: Osteoporosis is a chronic metabolic bone disease, highly prevalent in the elderly population, especially in postmenopausal women. Denosumab is a potent anti-resorptive drug, which can be used as an initial therapy or as an alternative therapy in the treatment of osteoporosis.Objective: We aimed to analyze the characteristics of patients, the evolution of bone mass density (BMD) and trabecular bone score (TBS) and the factors associated with f...

This review assessed recent literature (RCTs, longitudinal studies, meta-analyses) from the past decade via PubMed, Google Scholar, and Scopus to gauge the impact of prenatal and postnatal vitamin D (VD) supplementation on maternal and infantile vitamin D status.Results: We analyzed 12 studies (n=6253 mothers). In a prospective interventional study involving 80 women who received two doses of VD injections (600,000 IU/ml each), 60% of women disp...

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a rare genetic condition characterized by medullary thyroid cancer (MTC), often accompanied by primary hyperparathyroidism (PHPT) in 20% to 30% of cases which is usually detected while investigating other issues and is not commonly the initial indicator of the condition. This study aims to describe the specific features of primary hyperparathyroidism (PHPT) in MEN2A, providing insights into its distinct characterist...

Introduction: Primary hyperparathyroidism is frequently accompanied by low vitamin D levels. This study aims to assess the vitamin D status of patients diagnosed with primary hyperparathyroidism, with a focus on determining the prevalence of insufficient and deficient 25(OH) D levels in this patient population.Patients and Methods: Conducted as a retrospective study over a 7-year period (2015-2022), our research was carried out at the endocrinology-diabe...

Introduction: Hungry Bone Syndrome (HBS) is characterized by a profound and persistent state of hypocalcemia, typically observed following parathyroidectomy or thyroidectomy. This syndrome manifests in the postoperative period, and its occurrence is associated with extended exposure to elevated levels of parathyroid hormone (PTH) or thyrotoxicosis. This prolonged exposure results in heightened bone turnover rates, marked by a net loss of bone minerals through resorption. We re...

Introduction: Hypercalcemic crisis is a rare therapeutic emergency, but one that should not be overlooked, particularly during pregnancy, when it is associated with significant maternal-fetal morbidity. The most frequent etiology is PHPT, including during pregnancy.Observation: We report the case of a 34-year-old patient with no particular pathological history, pregnant at 34 weeks of amenorrhea, who presented with acute cholecystitis. The blood test sho...

Background: Milk- alkali syndrome (MAS), characterized by the triad of hypercalcemia, metabolic alkalosis, and renal dysfunction, is increasingly recognized as a complication of calcium supplementation, particularly in the management of hypoparathyroidism. Some have proposed should be called calcium- alkali syndrome (CAS). We delineate two cases of CAS and provide a review of relevant literature, emphasizing the endocrine aspects of CAS.Case Presentation...

Diagnostic value of daily calciuria on a strict diet in patients with primary hyperparathyroidism. The most common cause of primary hyperparathyroidism is monoclonal hyperplasia of a single mutant cell. Most somatic mutations found in adenomas regulate the cell cycle by increasing the speed of cell division. This means that stimulating stimuli, such as negative calcium balance, increased phosphorus retention, disturbances of the calcitriol/VDR/FGF23/KLOTHO axis, or lack of inh...

Primary hyperparathyroidism is a common cause of hypercalcaemia increasing in prevalence with age peaking in females at 70-90 years of age (492 cases/100,000 population) and in males above 80 years of age (264 cases/100,000 population). Immobilisation hypercalcaemia is regarded as an uncommon non-parathyroid hormone dependent cause of hypercalcaemia typically occurring in young patients with spinal cord injuries and neuromuscular disorders. It is of complex physical and molecu...

Introduction: Obesity has become a major health problem and a global epidemic, with a worldwide prevalence that has doubled over the last three decades. According to the WHO, obesity is defined as a body mass index of 30 kg/m2 or more The relationship between obesity and bone capital has been proven. A few years ago, it was thought that obesity had a protective effect on bone, a belief that influenced clinical practice. However, various pathogenic mechanisms, notably vitaminD ...

Introduction: Hypocalcemia is one of the most common electrolyte disorders. It is defined by a total calcium level <2.12 mmol/l (85 mg/l). Acute hypocalcemia is considered as a medical emergency.Objectives: To describe the epidemiological, clinical, and etiological profile of patients undergoing treatment for acute hypocalcemia, as well as the management.Patients Et Methods: This is a retrospective study including 60 patients h...

Several studies suggest that vitamin D (VitD) has beneficial effects on male reproduction. Analysis of the correlation between VitD and sperm quality parameters demonstrated that it has a significant impact on sperm motility, partially suggesting a relationship between higher serum testosterone levels and VitD levels. In females, vitD deficiency is associated with adverse pregnancy outcomes and metabolic complications in PCOS. However, there is still no concrete evidence to su...

Introduction: Chronic hypoparathyroidism and its treatment are associated with an increased risk of complications that can impact the patient’s quality of life.Objectives: To describe the epidemiological, clinical, etiological profile, and long-term complications of patients with chronic hypoparathyroidism.Patients and methods: A retrospective descriptive study over a 4-year period involving 66 patients with chronic hypoparath...

Introduction: Primary hyperparathyroidism (PHPT) is characterized by parathyroid hormone (PTH)-dependent hypercalcemia. It is associated with numerous complications, including an increased risk of cardiovascular disease. The aim of our study is to assess the cardiovascular risk of patients with PHPT.Methods: We conducted a retrospective descriptive study, including 51 patients hospitalized in the department of endocrinology-diabetology and nutrition for ...

Introduction: Hypercalcemia crisis constitutes a metabolic emergency associated with high mortality. Occasionally, it can be the mode of revelation of primary hyperparathyroidism. Objectives: To analyze the clinical characteristics of patients presenting with hypercalcemia crisis revealing primary hyperparathyroidism. And to describe the complications and evolution of the disease.Patients and methods: Retrospective descriptive stud...

Background: Ehlers–Danlos syndrome is a group of genetic diseases characterized by alterations in connective tissue structure, which may lead to increased bone mass loss and predispose to osteopenia and osteoporosis. The effect of obesity on bone mass loss is inconclusive. The purpose of this study was to assess the relationship between obesity and bone mineral density (BMD) in women with Ehlers–Danlos syndrome.Material and methods: The study i...

Background : Ehlers–Danlos syndrome encompasses a group of genetic conditions characterized by alterations in connective tissue structure, with the consequent increased risk of developing osteopenia, osteoporosis, and incurring fractures. Maintaining vitamin D levels within normal limits is known to play an important role in preventing these complications, which seems to be particularly important in patients with Ehlers–Danlos syndrome. The purpose of this study was ...

Introduction: Hyperparathyroidism is the third most common endocrinopathy. Minimally invasive surgery using a unilateral approach is now increasingly common. In such cases, preoperative localization of the lesion by imaging is essential. Among the techniques available, ultrasound and scintigraphy play a predominant role.Objective: our aim is to evaluate the diagnostic contribution of ultrasound and parathyroid scintigraphy in localizing the pathological ...

Management of calcium disorders can be a real challenge during the different stages of acute kidney injury complicating rhabdomyolysis.Aim: The aim of this presentation is to present a clinical case diagnosed with rhabdomyolysis, which was complicated by severe hypocalcemia during the acute phase and later on during the recovery phase with hypercalcemia.Case presentation: We present a female patient, 57 years old, who presented to ...

Introduction: COVID-19 is a potentially serious disease with a high case fatality. At present no specific drug has been shown to be effective and safe in treating it. Recently, evidence suggests that higher levels of vitamin D protect against this infection. However, published studies on this subject are limited. The aim of this work was to investigate an association between hypovitaminosis D and SARS-CoV-2 infection.Methods: This was an analytical cross...

Introduction: Primary hyperparathyroidism (PPH) may be complicated by pancreatitis. The association of primary hyperparathyroidism with pancreatitis is rare, We report the case of three patients presenting with hyperparathyroidism revealed by acute pancreatitis.Observation: A 78-year-old female patient with no previous history of pancreatitis presented to the emergency department with abdominal pain and bilious vomiting. An abdominal CT scan was ordered,...

Introduction: Although Primary hyperparathyroidism is the most common cause of hypercalcemia in the general population, it is a less frequent cause of hypercalcemia among patients with cancer. It is estimated that approximately 80% of the hypercalcemia in cancer is mediated by humoral hypercalcemia of malignancy resulting from elevated parathyroid hormone-related peptide (PTHrp), while almost 20% is the result of local osteolytic hypercalcemia. The aim of this work is to prese...

Introduction: Primary hyperparathyroidism(PHPT) is a prevalent endocrine disorder characterized by hypercalcemia due to the overproduction of parathyroid hormone(PTH) from one or more parathyroid glands. While PHPT is typically diagnosed incidentally through routine laboratory testing due to asymptomatic hypercalcemia, acute pancreatitis as the initial symptom is a rare occurrence. This article presents three cases where acute pancreatitis served as the first manifestation ofP...

Introduction: Primary hyperparathyroidism, is a common endocrine disorder, but rarely related to ectopic parathyroid. Often asymptomatic, it presents a problem of localization and hence therapeutic management. We report a rare case of an ectopic thymic parathyroid adenoma.Description: We report a case of 62-year-old women, with a history of recurrent urinary infection due to pyelocalcic lithiasis, whose etiological investigation revealed the presence of ...

Introduction: Acute Necrotising Pancreatitis caused by Hypercalcemia secondary to Primary hyperparathyroidism is a rare condition1. The prevalence of acute pancreatitis in patients with PHPT is estimated between 1.5% and 7%2. We report a case of male patient with severe necrotising pancreatitis associated with hypercalcemia secondary to primary hyperparathyroidism. Case Report: A 55-year-old man presented with sudden episode of seve...

Background: In the multifarious etiopathogenesis of skeletal fragility, an intriguing novel element is the possible existence of a crosstalk between autonomic nervous system (ANS) function and bone health. Indeed, sympathetic overactivity might stimulate osteoclastogenesis and inhibit osteoblastic proliferation, whereas opposite effects would be exerted by a prevalent parasympathetic activation. Autonomic Nervous System Index (ANSI) is a percent ranked (0–100) unitary pro...

Introduction: Cerebral palsy (CP) is the most common chronic disability in childhood, burden by motor, sensation, cognition, feeding and communication impairment. A serious concern in children with CP is bone/muscle health deterioration, which negatively impacts the already reduced quality of life (QoL). Irisin is a myokine secreted by contracting muscle, which mediates beneficial effects on several targets, including brain. The aim of this pilot study was to evaluate serum le...

Introduction: Hypophosphatasia (HPP) is characterised by a deficiency of non-tissue-specific alkaline phosphatase. This results in abnormal mineralisation of bone tissue which predisposes to fragility fractures. Moreover, an affected muscle compartment could favour the risk of fracture. The aim was to evaluate the relationship between the bone and muscle compartment.Material and Methods: Cross-sectional study in adults with PPH. Demographic (age, sex), a...

Introduction: Brown tumor of bone, also called osteitis fibrosa cystica is a rare non-neoplastic lesion resulting from abnormal bone metabolism in hyperparathyroidism (HPT). Facial involvement is exceptional and, when present, usually involves the mandible, but is rare in the maxilla. These lesions can simulate a malignancy on clinical examination and routine radiographs. We aim through this case to present clinical and therapeutic particularities of a maxillary located brown ...

Introduction: Hyperparathyroidism is a condition marked by an overproduction of parathyroid hormone (PTH) due to excessive activity in one or more parathyroid glands. It is a prevalent disorder that may manifest as primary, secondary, or tertiary. In this report, we present three clinical cases highlighting intricate scenarios where determining the primary or tertiary origin of hyperparathyroidism proves challenging.Case reports: A 33-year-old female wit...

Background: Collagen, whose biosynthesis is regulated by thyroid hormones, is the most abundant connective tissue protein. Ehlers–Danlos syndrome alters collagen structure, which may affect bone mineral density (BMD). The purpose of this study was to assess the effect of autoimmune thyroiditis on BMD in females with Ehlers–Danlos syndrome. Material and methods: The study involved a prospective assessment of 30 female patients, aged 20–53 y...

Background: The alterations in collagen synthesis and connective tissue structure that occur in Ehlers–Danlos syndrome translate to an increased risk of bone mass loss and development of osteopenia and osteoporosis, which may be evaluated with bone turnover biomarkers. Some subtypes of Ehlers–Danlos syndrome are associated with structural alterations in the extracellular matrix glycoprotein tenascin-X. The purpose of this study was to assess the relationship between ...

Introduction: Fahr’s disease, is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia with a prevalence of <1/1 000 000Case report: A 15-year-old male presented with focal seizures in right upper and lower limbs that progressed to generalized tonic clonic seizure and status epilepticus. No history of head trauma, central nervous system infection, stroke, hypertension, diabetes, or autoimmune disease No f...

Introduction: Brown tumor is a rare expansile osteolytic lesions benign bone lesion that arises as a direct result of parathyroid hormone on bony tissue in some patients with hyperparathyroidism. The reported prevalence of the brown tumour is 0.1% Brown tumor as the only and initial symptom of normocalcemic primary hyperparathyroidism is a rare clinical entity. Here, we present a case with multiple brown tumors in a young normocalcemic woman as a sequele of primary hyperparath...

Background: Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis (1). Children with hypophosphatemic rickets present poor growth, deformities of weight-bearing limbs such as genu varum or valgus, a ‘rachitic rosary’ invo...

This case report highlights an unusual side effect of hypophosphatemia linked to Abacavir; a medication commonly used in the treatment of HIV. A 36-year-old male patient was referred to the endocrine team due to persistent hypophosphatemia while receiving Abacavir for his HIV management. Extensive investigations, including assessments of calcium levels Urea and Electrolytes, parathyroid hormone (PTH), Vitamin D, serum magnesium, and serum cortisol and fibroblast growth factor ...

Background: Two prevalent and underdiagnosed endocrine disorders are primary hyperparathyroidism and Klinefelter syndrome. The main cause of primary hyperparathyroidism is parathyroid adenoma. Less commonly multiple parathyroid hyperplasia have been described with or without genetic mutations. Klinefelter syndrome could also be seen as a genetic disorder, being a chromosomal condition. Methods: We report an uncommon association, without any family histor...

Introduction: Milk – alkali syndrome is a rare and distinctive disorder caused by ingestion of large amounts of calcium and absorbable alkali resulting in hypercalcemia. It is characterized by a triad of hypercalcemia, metabolic alkalosis and renal failure. It was first described in 1920s, as it was mainly caused by administration of milk and bicarbonate for treatment of peptic ulcers. Since the usage of new treatment modalities for peptic ulcer disease, the incidences of...

Introduction: Severe hypercalcemia is defined as a total serum calcium level >14 mg/dl or ionized calcium >10 mg/dl . The most common causes are primary hyperparathyroidism (PHPT) and neoplasms (90% of cases). Vitamin D intoxication is an extremely rare cause. Case Report: A 56-year-old man presented to the emergency department with vomiting, generalized weakness and complaints of imbalance over one week. Upon physical examination, he displayed c...

Introduction: Milk-Alkali Syndrome (MAS), also known as Burnett’s syndrome, is a triad of hypercalcemia, acute kidney injury and metabolic alkalosis, traditionally associated with excessive intake of milk and absorbable alkali. With changes in dietary supplements and medical prescriptions, its re-presentation in modern clinical practice has evolved making it the third common cause for hypercalcemia. This abstract presents a unique case of MAS resulting from relatively sup...

Background: Primary hyperparathyroidism (PHPT) is a systemic disease caused by lesions of the parathyroid gland, such as parathyroid adenoma, parathyroid hyperplasia, and parathyroid carcinoma. Bone disease is an important complication of hyperparathyroidism. We herein report a rare case of severe bone disease caused by primary hyperparathyroidism.Case report: A 33-year-old female patient presented with a history of right lower limb pathological fracture...

Introduction: hyperparathyroidism is an endocrinopathy affecting calcium metabolism. Its curative treatment is surgical. Postoperative hypocalcemia is one of the main risks of this surgery.Objective: The aim of this study is to identify predictive factors of postoperative hypocalcemia after surgery for primary hyperparathyroidism.Method: This is a retrospective study including 84 patients operated on for pimary hyperparathyroidism ...

Introduction: Primary hyperthyroidism relates to the thyroid gland producing large amounts of hormone due to either uncontrolled growth of hormone-producing functional tissue. This condition needs to be treated surgically in order to prevent complications.Objective: The aim of this study is to describe the surgical treatment of primary hyperparathyroidism.Method: This is a retrospective study of 84 patients operated on for pimary h...

Back Ground: Familial hypocalciuric hypercalcemia (FHH) is a benin cause of hypercalcemia that is characterized by autosomal dominant inheritence with high penetrance. In most cases, FHH results from inactivating mutations in the CaSR, the phenotypic aspect is a mild to moderate hypercalcemia, inappropriately normal or high PTH levels and relative hypocalciuria.Case report: We describe an atypical case of a 46 years old man who had clinical finding compa...

Introduction: Hypoparathyroidism refers to a set of clinical and biological manifestations that occur when parathormone secretion is insufficient. Individuals enduring persistent hypoparathyroidism encounter various symptoms and face enduring complications that may jeopardize their overall well-being."Objectives: The objective of our study is to assess the quality of life (QOL) of patients followed for hypoparathyroidism receiving conventional treatm...

Introduction: Hypoparathyroidism treatment is aimed to achieve a serum calcium at the lower limit of normal providing symptom resolution and preventing complications such as urolithiasis and renal impairment. Milk-alkali syndrome (MAS) incidence has been gradually rising associated with the increase of calcium carbonate and vitamin D supplementation. The classic triad is characterized by metabolic alkalosis, hypercalcemia and renal failure.Case report: A...

Introduction: Primary hyperparathyroidism JawTumor Syndrome is a rare genetic disorder characterized by the synchronous or metachronous occurrence of primary hyperparathyroidism and an ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma.Observation: We report the case of a 30-year-old young woman who consulted for a limp in walking,6 months after having been operated for a juvenile ossifying fibrom...

Background: The presentation of primary hyperparathyroidism has changed radically over 30 years. Indeed, currently, asymptomatic forms which represented around a quarter are now estimated at 80% of cases.Case description: We report the case of a 57-year-old women, postmenopausal for 10 years, who presented following a fall from height with a triple pathological fracture (the left humeral head and the two upper ends of the femurs). Surgical treatment was ...

Summary: Simpson Golabi Behmel Syndrome (SGBS) is a rare syndrome characterized clinically by multiple congenital anomalies, pre and postnatal overgrowth, characteristic craniofacial anomalies, macrocephaly, and organomegaly associated with abnormalities of the skeletal system. The spectrum of signs and symptoms associated with SGBS is wide, ranging from very mild to fatal forms, especially in affected men. We report a rare case of a child affected by SGBS type 1, emphasizing ...

Introduction: Hypophosphatasia (HPP) presents with defective bone mineralisation secondary to a deficit of non-tissue-specific alkaline phosphatase, increasing the risk of bone fracture. Sarcopenia may increase this risk. Therefore, rapid diagnosis with accessible and cost-effective tools such as ultrasound could be useful in clinical practice. The aim was to assess the correlation of ultrasound with another validated muscle mass assessment technique.Mat...

Background: Avascular necrosis of the femoral head (AVNFH) is a disorder caused mainly by chronic glucocorticoid use. Systemic corticosteroid (CS) therapy was widely used in patients with mild or moderate SARS-CoV 2 infection despite lack of clinical benefits. However, emerging evidence suggests that COVID-19 infection can cause long-term effects, affecting different body systems, known as ‘long COVID-19’1. One such sequela is AVNFH, although the link betw...

Objective: Menopausal hormone therapy (MHT) is efficacious in reducing the risk of vertebral, non-vertebral and hip fractures, irrespective of age, falls risk or baseline FRAX probability. However, the optimal sequential anti-osteoporotic treatment after MHT discontinuation has not yet been designated. This systematic review aimed to obtain the best evidence regarding the effect of antiresorptive or osteoanabolic treatment on bone mineral density (BMD) and/or fracture risk fol...

Introduction: Superficial phlebitis is a clinical manifestation found in many pathologies, often unexplored or mistaken for simple venitis. It should be noted that it may be part of the thromboembolic complications of primary hyperparathyroidism, or an unusual mode of revelation. We describe 2 clinical situations which illustrate this symptom discovered in two different contextsObservation 1: 60-year-old patient admitted for investigation of symptomatic ...

Background: Recurrenthyperparathyroidism following total parathyroidectomy with autotransplantation in patients with end-stage renal disease who are on hemodialysis is not an uncommon condition and can be due to hyperplastic autografted tissue, remnant parathyroid tissues in the neck or in the presence of ectopic and/or supernumerary parathyroid glands.Case report: We report the case of a 66-year-old patient with a history of chronic kidney disease on he...

Introduction: Congenital ichthyoses are a group of inherited keratinization disorders that pose a challenge in terms of diagnosis, treatment, and clinical associations with other pathologies. The association with vitamin D deficiency and possible bone changes is cited, but the exact mechanism of occurrence of endocrine pathologies is not described.Case report: We report the case of a 16-year-old teenage boy known to have congenital ichthyosis, having bee...

Recurrent hypercalcemia after successful parathyroidectomy has been reported to be higher than previously thought. Most cases are transient and often associated with other factors, with only a minority requiring treatment. Multidisciplinary diagnosis is necessary to prevent persistence and recurrence. A 55-year-old female patient with a history of surgical removal of a right parathyroid adenoma four years prior, lost from follow-up, was referred to our clinic for persistent as...

Background: Hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health, social life, and leisure activities. The most common cause of Hypophosphatemic rickets is genetic factors, such as X-linked hypophosphatemia. The evaluation of the scientific application of familial hypophosphatemic rickets aids in understanding the research landscape, identifying opportunities for improvement, and promoting sign...

Introduction: Osteoporosis can be associated with Cushing syndrome or hyperthyroidism but is an unusual finding in a patient with primary adrenal insufficiency (with physiological dose of steroid replacement) and concurrent autoimmune hypothyroidism without any other secondary causes of osteoporosis. We present a case of severe osteoporosis in a postmenopausal female in whom we could not establish a verifiable cause. Case: A 60-year-old postmenopausal wo...

A 71-year-old man presented to the emergency department with dyspnoea and general weakness. He had a history of stable COPD, coronary artery disease, abdominal aneurysm surgery, and prostate cancer. One month ago, he had survived a SARS-CoV-2 infection. His somatic status was normal, blood pressure was 115/65 mmHg, heart rate was 63/min, he was afebrile 36.6 °C with the exception of SpO2 which was 83%. His initial laboratory results showed severe hypercalcaemia (Ca 3.52 m...

Introduction: DiGeorge syndrome (DGS) is mainly characterized by congenital heart defects, dysmorphic features, hopolasia of the thymus and parathyroid glands and immunodeficiency. Approximately 10% of patients with DGS have autoimmune disease1. Observation: This is a 21-year-old patient, diagnosed with DGS at the age of 14 year old. The diagnosis was suspected on the association of characteristic facial, hypoparathyroidism and a congenital he...

Introduction: While hypercalcemia is extensively studied in cancer patients, the occurrence of hypocalcemia is not as commonly reported. The unique aspect of this case lies in severe hypocalcemia against the background of a malignant tumor of the cervix, a condition often associated with hypercalcemia.Case report: A 66-year-old patient, diabetic for 13 years with insulin therapy, is being treated for poorly differentiated squamous cell carcinoma of the c...

Theassociation of primary hyperparathyroidism with autoimmune diseases is described very rarely in the literature so far. There are only few cases of immune-mediated hyperparathyroidism, associated with anti-calcium- sensing receptor autoantibodies, Recent epidemiological studies have shown that coeliac disease is more common than previously thought, with prevalence approaching 1%.Observation : A 47-year-old woman was diagnosed as having coeliac disease ...

In the presented case, an 85-year-old female patient with bipolar disorder exhibited significant endocrine complications, including hyperparathyroidism and diabetes insipidus, which were strongly associated with long-term lithium therapy. The resolution of these complications following the discontinuation of lithium and the transition to an alternative mood stabilizer underscores several important clinical implications. Firstly, this case highlights the need for vigilant monit...

Introduction: Primary hyperparathyroidism, is a common endocrine disorder, but rarely related to ectopic parathyroid. Often asymptomatic, it presents a problem of localization and hence therapeutic management. We report a rare case of an ectopic thymic parathyroid adenoma.Description: We report a case of 62-year-old women, with a history of recurrent urinary infection due to pyelocalcic lithiasis, whose etiological investigation revealed the presence of ...

Introduction: Primary hyperparathyroidism is a condition in which one or more parathyroid glands have a pathological secretion of parathyroid hormone due to their abnormal function. Secondary hyperparathyroidism has normal parathyroid glands, but an abnormal secretion of PTH because of an underlying condition that influence their activity. It is important to differentiate between primary and secondary hyperparathyroidism because of the different treatment.<p class="abstext...

One of the main causes of protracted, severe hypocalcemia after parathyroidectomy is hungry bone syndrome (HBS). We report the case of a 40-year-old man who was first admitted to the Endocrinology department of Zemun Clinical Hospital (ZCH) in order to perform a workup for hypercalcemia. Further laboratory and imaging diagnostics indicated that a giant parathyroid adenoma, measuring approximately 6 cm in size, was the cause of the hypercalcaemia. An endocrine surgeon at the Cl...