Endocrine Abstracts

Context: Numerous studies propose a potential role of PTH in uric acid (UA) metabolism, particularly through its impact on the ABCG2 transporter, which is responsible for UA excretion in the intestines and kidneys. Another suggested mechanism involves increased tubular reabsorption of UA due to hypercalcemia-induced extracellular volume contraction. Elevated UA levels constitute a well-established risk factor for cardiovascular disease, nephrolithiasis, and chronic kidney dise...

Subcutaneous ossifications (SCO) represent a recognized manifestation of pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP), posing significant morbidity to affected individuals. This report details the case of a 37-year-old woman with PHP1A with extensive scalp calcifications, an unusual and unexpected finding. The patient presented with multiple firm skin nodules on the right knee and dorsum of both hands. Having been diagnosed with hypothyroi...

Objective: The definitive treatment of primary hyperparathyroidism (PPH) is the removal of the affected gland(s). However, its localization can be complicated. The usefulness of 18F-Choline PET-CT versus classical techniques is unknown. The aim of this study was to evaluate the results of 18F-Choline PET-CT in the detection of hyperfunctioning parathyroid tissue with respect to conventional imaging tests and to analyze the relationship between its findings and the levels of ca...

Background/aim: Primary hyperparathyroidism (pHPT) is a relatively common endocrine disorder, which is associated with severe disruption of calcium metabolism and deterioration of bone density and quality. Our study aimed at examining the effect of parathyroidectomy on bone mineral density (BMD), T-Score in both the femoral neck (FN) and the lumbar spine (LS) and on trabecular bone score (TBS).Materials and methods: A cohort of 280 adult patients (195 ma...

Introduction: The basis of treatment of primary hyperparathyroidism (pHPT) is parathyroidectomy of the responsible lesion, and thus, preoperative localization is important. Ectopic parathyroid adenomas are rare, and they can be accounted for persistent or recurrent hyperparathyroidism. An intrathyroidal parathyroid adenoma (IPA) is an ectopic variant where the adenoma is either partly (>50%) or completely enveloped by the thyroid gland. The incidence of IPAs ranges from 0....

Introduction: Hypoparathyroidism is one of the most common complications following thyroidectomy and it is associated with significant morbidity. It usually occurs within the first 48 h after thyroid surgery, however hypocalcemia symptoms may only begin up to 64 h after surgery. Therefore, early detection of hypoparathyroidism is essential to a secure postsurgery discharge.Objectives: We aimed to evaluate the potential risk factors for postsurgical hypop...

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting and inappropriately low 1,25-dihydroxy-vitamin D causing hypophosphatemia. In children, the disease manifests as rickets and osteomalacia, in adults osteomalacia.Aim: The study aims to describe the co-morbidities more prevalent in adults (18y+) with HH and the median age at first diagnosis compared to controls.Methods:...

Introduction: Greek Orthodox monasteries due to their sartorial habits, comprise a population with high prevalence of hypovitaminosis D. Intermittent religious fasting is adopted by this population, as well as from a large part of general lay Greek population. Comparative effects of vitamin D supplementation and intermittent fasting on vitamin D equilibrium and calciotropic profiles remain scarce.Aim: To comparatively evaluate effects of vitamin D supple...

Background: Hypophosphatemia is of relevant clinical importance, especially in its severe form. Hypophosphatemia occurs when serum phosphate levels are below 0.84 mmol/l. It can be divided into a mild form (serum phosphate between 0.5 and 0.83 mmol/l), a moderate form (serum phosphate between 0.3 and 0.5 mmol/l) and a severe form (serum phosphate <0.3 mmol/l). Approximately 2.2 to 3.1% of hospitalized patients not requiring intensive care are affected (Brunelli et al., 200...

Major adverse cardiac events (MACE) are the leading cause of death among hip fracture patients. This study aimed to: (1) identify hip fracture subphenotypes using LCA and (2) evaluate the prognosis of the hip fracture subphenotypes on CVE-related outcomes in two extensive hip fracture cohorts from Hong Kong (HK CDARS; n=78,417) and the United Kingdom (UK THIN; n=27,948), employing both the conventional cohort (between-individual comparison) design and the sel...

Background: Risk factors for fragility fractures were assessed in several prediction models (e.g. FRAX®, Garvan, FRISBEE, …). The predictors of a shorter ‘time to first fracture’ and its impact on imminent fracture risk, however, remain to be determined.Methods: The concept of ‘time to first fracture’ between inclusion in the FRISBEE cohort (‘Fracture RIsk Brussels Epidemiological Enquiry’; 3560 postmenopausal wom...

Background: A specific self-administered health-related quality of life questionnaire for sarcopenia, the sarcopenia and Quality of life (SarQol®) has been recently developed. The questionnaire is composed of 55 items and organized into seven domains of quality of life. The Pasieka Quality of life questionnaire (PAS-Qol) is a specific self-administered quality of life questionnaire that has been developed for patients with primary hyperparathyroidism. The questionnaire ha...

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting and inappropriately low 1,25-dihydroxy-vitamin D causing hypophosphatemia. In children, the disease manifests as rickets and osteomalacia, in adults osteomalacia. Complications from the disease appear with increasing age, in adults characterized by pain, arthrosis, persisting deformities of long bones if not corrected during childhood causing compromised functions...

Introduction: Fibrodysplasia ossificans progressiva (FOP), also known as stone man disease, is a rare connective tissue disorder with a prevalence of 1 in 2 million. It is caused by a mutation in ACVR1 gene, usually sporadic and sometimes with autosomal dominant (AD) inheritance. These patients are normal at birth except for the short great toes and hallux valgus. Over time soft tissues such as ligaments, skeletal muscles or tendons ossify. Diaphragm, tongue, extraocular and c...

Introduction: Primary hyperparathyroidism (PHPT) is a state of increased bone turnover that can result in secondary osteoporosis. Antiresorptive treatment can be used to preserve bone mineral density (BMD). We compared the impact of zoledronate and denosumab on bone-related biochemical parameters.Methods: We analyzed interim data from our ongoing randomized trial on osteoporotic postmenopausal women with PHPT who are being treated with either zoledronate...

Background: Calculation of the fractional excretion of calcium (FECa) from 24-hour (24h) urine collections is recommended to identify patients with suspected familial hypocalciuric hypercalcemia (FHH) during the work-up of primary hyperparathyroidism (pHPT). The current study was designed to test whether calculating the FECa or calcium-to-creatinin clearance obtained from 24h urine specimen can be substituted by results obtained from second morning or spontaneous void urine sa...

Background: McCune Albright syndrome (MAS) is a rare mosaic genetic disorder affecting 1/100 000 to 1/1 000 000 of the population. It arises from a somatic gain-of-function mutation in GNAS gene. The clinical picture is complex and includes fibrous dysplasia (FD), café-au-lait spots, precocious puberty and other hyperactive endocrinopathies. The degree of FGF23 overproduction is correlated with FD severity, and frank hypophosphatemia occurs only in patients with extensive...

Less than 0.5% of parathyroid lesions are cysts out of which only 10–20% are endocrine active. Depending on their localisation, the most frequent symptom of a parathyroid cyst (PC) is neck mass (41.7%) with possible compressive symptoms. Women are more frequently affected and tend to have hormone-inactive PCs. Men tend to have endocrine-active PCs. The best diagnostic approach is still under debate as PCs are relatively rare.Case report 1: A 68-year...

Aging process is accompanied by structural and functional changes in different organs including bone and muscle tissues. Between these tissues there is a mutual interaction mediated by endocrine factors such as the peptide hormone osteocalcin, produced by osteoblasts. Since the skeletal muscles is composed of two basic fiber types, slow-twitch (type I) and fast-twitch (type II), the aim of this study was to examine the age-related changes in rat fast-twitch skeletal muscle fib...

Osteoporosis causes bone fragility usually affecting the elderly. Genetic susceptibility plays a crucial role in determining the risk of fragility fractures and is involved in early-onset osteoporosis. When fragility fractures or low bone mineral density (BMD) occur in young adults without evident secondary osteoporosis, an underlying monogenetic bone disease should be assessed. The list of genes related to low BMD and their mutations is increasing. Nevertheless, little is kno...

Background: Patients with Klinefelter’s syndrome (KS) present a high prevalence of osteopenia, osteoporosis and fragility fractures. Several factors may contribute to skeletal fragility, e.g. hypogonadism, derangements in vitamin D metabolism, reduced testicular secretion of Insulin-like Factor 3. However, phosphate metabolism has never been investigated.Methods: A retrospective analysis was conducted to investigate prevalence and characteristics of...

Introduction: Hypocalcemia is a possible complication of thyroid surgery, usually assumed in the context of iatrogenic hypoparathyroidism. On the other hand, Hungry Bone Syndrome (HBS) is a complication classically described after surgical correction of primary hyperparathyroidism. It is characterized by hypocalcemia with normal or elevated PTH values (usually accompanied by hypophosphatemia and hypomagnesemia) and occurs consequently to a compensatory bone formation after a p...

Background: Bone tissue is a non-classical endocrine organ, which controls phosphate metabolism through production of fibroblast growth factor 23 (FGF-23) mainly by osteocytes. Recent studies have demonstrated that specific proteins involved in paracrine regulation of bone remodeling can be measured in serum samples and may be involved in human metabolism.Aims: To evaluate serum biomarkers related to endocrine and paracrine function of bone tissue in pat...

Purpose: Vasomotor symptoms (VMS) adversely affect postmenopausal quality of life. However, their impact on bone health has not been elucidated. This study aimed to systematically review and meta-analyze the evidence regarding the association of VMS with fracture risk and bone mineral density (BMD) in peri- and postmenopausal women.Methods: A literature search was conducted in PubMed, Scopus and Cochrane databases until 31 August 2023. Fracture, low BMD ...

Introduction: The 22q11.2 deletion syndrome (22q11.2DS) caused by a microdeletion of the 22q11.2 region of chromosome 22 is the most common deletion in humans causing a variety of disorders, including DiGeorge syndrome (OMIM #188400), velocardiofacial syndrome (OMIM #192430) and distal chromosome 22q11.2 deletion syndrome (OMIM #611867). Most individuals diagnosed with this condition are identified in early childhood and the diagnosis in adults is uncommon. It is characterized...

Introduction: Morgagni–Stewart–Morel syndrome is defined as the absolute presence of hyperostosis frontalis interna, associated with metabolic, endocrine, and neuropsychiatric disorders. There are very few cases reported in the literature and some experts do not even recognize it but the exact etiology of the syndrome remains unclear; some theories relate to estrogen dysfunction, obesity and leptin dysfunction, and genetic alterations....

The clinical diagnosis of MEN1 is established when a proband manifests at least two of the manifestations of the triad (Primary Hyperparathyroidism (PHPT), Pituitary adenoma, Gastroenteropancreatic Neuroendocrine Tumor (GEP-NET)). Typically, it is a familial disease (F-MEN1), while in about 10% of cases the disease is sporadic. In sporadic forms (S-MEN1), up to 70% of patients may exhibit a negative genetic analysis (MEN1-negative). These patients seem to have distinc...

Hypoparathyroidism is a rare endocrine disorder characterized by inadequate production of parathyroid hormone to maintain normal blood calcium levels. Hypoparathyroidism is most frequently caused by damage to or removal of the parathyroid glands but can also be associated with genetic etiologies. Genetic forms of hypoparathyroidism can present as isolated or as part of a syndrome and include disorders of parathyroid gland formation, parathyroid hormone secretion, and damage to...

Introduction: The uncertainty surrounding the optimal dose to rectify severe vitamin D deficiency (VDD) necessitates further investigation.Aim: To review and analyze various vitamin D (VD) supplementation doses, durations, and their effects on 25-hydroxyvitamin D (25OHD) levels, along with their biochemical and clinical outcomes, in the management of VDD.Methods: We reviewed intervention studies targeting VDD from databases (PubMed...

Introduction: Fibrous dysplasia (FD) is a rare mosaic disorder originating from the activating mutation in the gene encoding the alpha subunit of the Gs stimulatory protein (GNAS) in multipotent skeletal stem cells that cannot differentiate into bone-forming osteoblasts. FD is thought to be a self-limited disease with a peak of activity in childhood and a waning of activity in adulthood.Case presentation: We report a 39-year-old woman with mild ...

Introduction: Immune check-point inhibitors (ICI) can cause adverse events in many organs due to the activation of T-cells. Data on the effect of ICI on bones and incidence of fracture is still scarce.Aim: To quantify the rate of osteoporotic fracture before and after the use of ICI in cancer patients.Methods: We retrospectively retrieved pertinent data of all patients who were treated with ICI between 2015 and 2023 at the Tel-Aviv...

Background: Primary hyperparathyroidism (PHPT) is the third most common endocrine disease and the most frequent cause of hypercalcemia in outpatients with an estimated incidence of 20/100 000/year and prevalence in the general population of 0.1%–0.4%. Parathyroidectomy (PTX) is the only treatment that can achieve PHPT cure but a few medications can be used to control calcium levels, bone and kidney impairment.Aims: 1) To assess costs associated with...

Inactivating PTH/PTHrP signaling disorders (iPPSDs, historically named pseudohypoparathyroidism (PHP)) are primarily characterized by end-organ resistance to parathormone (PTH), which leads to hypocalcemia, hyperphosphatemia and elevated PTH levels. The extent to which bone is responsive to PTH in these patients remains controversial. Until now, variable bone phenotypes have been associated to different subtypes of iPPSDs and increased concentrations of bone turnover markers (...

Introduction: Primary hyperparathyroidism (PHPT) is a prevalent endocrinopathy typically identified through biochemical testing. PHPT is characterized by hypercalcemia accompanied by increased or inappropriately normal plasma parathyroid hormone (PTH) concentrations. Preoperative imaging is conducted when surgery is indicated to pinpoint parathyroid adenomas. MIBI scintigraphy is highly specific and sensitive in diagnosing PHPT, with a higher adenoma detection rate demonstrate...

Context: Hyponatremia is associated with an increased risk of osteoporosis and fractures, and in recent years increasing evidence is accumulating in favor of a likely causal relationship between hyponatremia and bone loss. In rat models, the induction of hyponatremia enhances osteoclast activation and bone catabolism. In humans, the correction of hyponatremia by tolvaptan or SGLT2-inhibitors has a favorable effect on bone turnover markers, possibly due to an interplay both wit...

Our understanding of modifiable risk factors for developing primary hyperparathyroidism (PHPT) may support interventions to prevent the development of the disease or reduce its severity and deepen our insights into its pathogenesis. Obesity has been associated with elevated serum parathyroid hormone (PTH) in the general population and may also alter the clinical presentation in patients with PHPT.Objectives: The objectives of the study were to compare th...