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Aim: to present disorders of mineral and bone metabolism in patients with chronic liver diseases through clinical observations.Key points. The liver plays an important role in mineral metabolism: metabolic activation of vitamin D, synthesis of vitamin D-binding protein and albumin, metabolism of parathyroid hormone, etc. However, data on the development of mineral metabolism disorders, particularly hyperparathyroidism, in this population are very limited. Bone diseases such as osteoporosis and osteomalacia are quite common in chronic liver disease, especially in cirrhosis and cholestatic diseases; however, the pathogenesis of these disorders and their relationship with mineral metabolism remain poorly understood. The article presents cases of severe primary hyperparathyroidism (PHPT) in patients with chronic liver disease. In one patient with a long history of viral hepatitis C and cirrhosis, PHPT manifested with severe bone complications, including multiple vertebral compression fractures and a subsequent femoral neck fracture. Imaging studies revealed lesions of all four parathyroid glands, and the removal of the largest lesion did not result in disease remission. In the second case described, PHPT was diagnosed in a patient with bone pain and osteoporosis following orthotopic liver transplantation for Budd — Chiari syndrome with cirrhosis. One year after the initial surgical treatment for PHPT, the patient experienced a recurrence of the disease, with confirmed multiglandular lesion.Conclusion. In patients with chronic liver diseases, disorders of mineral and bone metabolism remain a significant yet not fully understood problem. Further studies are needed to develop therapeutic approaches for this group of patients to prevent the onset of late, disabling complications.

Primary hyperparathyroidism (PHPT) in pregnant women is a rare condition, often remaining undiagnosed due to non-specific clinical symptoms. However, it can lead to life-threatening complications for both the mother and fetus. In vitro fertilization (IVF) is also associated with an increased probability of adverse outcomes compared to the general population. Timely diagnostics and personalized treatment, taking into account the extremely high risk of complications if PHPT and pregnancy result from IVF, require attention of healthcare professionals and formation of a multidisciplinary team.

BACKGROUND: Chronic hypoparathyroidism is a relatively rare disease, which usually treated active forms of vitamin D and oral calcium supplements. Supplementation with native vitamin D can be useful both for achieving «non-skeletal» effects of vitamin D and for a more stable serum calcium profile.AIM: The aim of this study was to estimate the daily serum calcium and 24-hour urine calcium levels depending on different 25(OH) vitamin D values in patients with chronic hypoparathyroidism on treatment of active forms of vitamin D and calcium supplements.MATERIALS AND METHODS: Forty patients with chronic hypoparathyroidism were involved in the study. All patients were divided in two groups, matched on sex and age, according to the median level of 25(OH) vitamin D in the total group.RESULTS: There were no significant differences between groups by total, albumin-adjusted serum calcium levels and urine calcium excretion. Patients with serum 25(ОН) vitamin D level ≥ 35 ng/ml had significant tendency to achieve more often the target levels of total serum calcium during the day (128 vs. 149 measurements during the day, p=0.049, χ2). However, this tendency disappeared for albumin-adjusted serum calcium levels (p=0.517, χ2). There frequency of hypercalcemia by albumin-adjusted serum calcium in the group of patients with 25(ОН) vitamin D ≥ 35 ng/ml (p=0.006, χ2) was significantly lower, but not for total serum calcium (a trend, p=0.042, χ2). As regards hypocalcemia, there were no significant differences by albumin-adjusted serum calcium (p=0.581, χ2) and it tends to lower frequency by total serum calcium (p=0.023, χ2).CONCLUSION: The additional administration of native vitamin D in patients with chronic hypoparathyroidism may have some advantages, related to the general concept of worldwide vitamin D deficiency and better disease control.

BACKGROUND: Primary hyperparathyroidism (PHPT), one of the most common endocrine pathologies, is associated with a higher incidence of cardiovascular diseases, in particular, those caused by endothelial dysfunction. Evaluation of endothelial dysfunction in patients with PHPT will predict the development of cardiovascular pathology and determine the optimal tactics for PHPT management.AIM: To evaluate the concentration of soluble endoglin and photoplethysmographic parameters as potential markers of endothelial dysfunction in patients with PHPT.MATERIALS AND METHODS: A single-center interventional single-stage study was carried out. 2 groups were formed. The first group included 50 patients with verified PHPT who did not have cardiovascular or other concomitant somatic pathologies in anamnesis. The comparison group included 21 healthy volunteers comparable in sex and age. All participants underwent a biochemical blood test (total calcium, ionized, albumin, lipidogram, urea, uricacid, glucose, creatinine, alkaline phosphatase), parathyroid hormone, 25 (OH) D and endoglin concentrations were evaluated. In addition, echocardiography, ultrasound of the brachiocephalic arteries and arteries of the lower extremities, as well as photoplethysmography were performed.RESULTS: The groups differed in mineral parameters associated with PHPT; no differences were found in parameters of lipid, uric acid and carbohydrate metabolism. Serum levels of endoglin were lower in PHPT patients (p=0.002). We found a negative correlation between the concentration of albumin-corrected calcium and PTH with endoglin (r1=-0.370, p1=0.003 and r2=-0.475, p2

BACKGROUND: In patients with end-stage CKD, receiving renal replacement therapy (RRT) with programmed hemodialysis (HD), the severity of complications is associated with metabolic disturbances: accumulation of uremic toxins, nephrogenic anemia, secondary hyperparathyroidism (SHPT), extraskeletal calcification, impaired clearance and rhythm of hormone secretion.AIM: To evaluate the main biochemical and hormonal parameters, and manifestations of mineral bone disease (MBD) in patients receiving RRT with HD, before and after hemodialysis, taking into account the presence or absence of diabetes mellitus.MATERIALS AND METHODS: We divided all patients receiving RRT with HD in two groups: #1 (n=24) — patients with DM, #2 (n=16) — patients without DM. All of them had their blood analyzed before and immediately after the HD. Data analysis was performed with the Statistica 13 (StatSoft, USA). A prognostically significant model was considered at p0.05); hyperphosphatemia in group #1 was completely leveled, in group #2 it persisted in 7% of cases (p=0.417). Prior to the HD session, group #1 had significantly higher levels of RAGE, glucagon, immunoreactive insulin (IRI), cortisol, and glucose than after the HD session (p

BACKGROUND: Studies have shown a high incidence of metabolic disorders and cardiovascular diseases in patients with primary hyperparathyroidism (PHPT). PHPT is usually diagnosed in people of age over 50 years and therefore age-associated changes of metabolism should be excluded. Researching predictors of cardiovascular pathology contributes to choosing optimal approaches to personalized patient management.AIM: To determine the features of metabolic disorders in patients of various age groups with confirmed active stage of PHPT.MATERIALS AND METHODS: A single-center observational retrospective comparative study of patients with active PHPT at the age of 18-49 years (Group 1, n=66) and over 50 years (Group 2, n=290) was carried out. The exclusion criteria for both groups were: persistent PHPT or recurrence after surgical treatment of the disease in history; clinical/genetically confirmed multiple endocrine neoplasia syndrome; for Group 1 — pregnancy, lactation. The assessment of laboratory parameters of mineral, carbohydrate, fat and purine metabolism obtained during a hospital examination was carried out, the frequencies of various metabolic disorders were determined and compared between age groups.RESULTS: There were no significant differences in parathyroid hormone and serum calcium levels between age groups, however, there were more severe hypercalciuria, a tendency to active bone metabolism and lower vitamin D level in Group 1. Patients of Group 2 had statistically significantly lower glomerular filtration rate and a higher frequency of bone complications. In the same group glycaemia and triglycerides levels were higher (the latter difference has the level of a statistical tendency). These patients also had a higher body mass index and, as a result, a higher incidence of obesity (37% vs 20%, p=0.006) and diabetes mellitus type 2 (12.5% vs 3%, p=0.013). At the same time, patients did not significantly differ in the rates of hypercholesterolemia (62% in Group 1 vs 70% in Group 2, p=0.228), hypertriglyceridemia (27% vs 32%, p=0.433) and hyperuricemia (42% vs 50%, p=0.302), significantly exceeding similar indicators in the general Russian population.CONCLUSION: Carbohydrate disorders are more often observed in patients older than 50 years, providing an increased prevalence of diabetes mellitus type 2 among patients with PHPT compared with the general population. The high incidence of various types of dyslipidemia and hyperuricemia in the primary parathyroid pathology has no age specific features. Thereby these disorders are significant risk factors of cardiovascular diseases, even in young people with PHPT.

Hypoparathyroidism is an endocrine disease caused by damage of the parathyroid glands and characterized by underproduction of parathyroid hormone. This can lead to severe hypocalcemia and its associated complications. The chronic hypoparathyroidism requires lifelong therapy including calcium and vitamin D analogues. The goal of treatment is to maintain the target parameters of phosphorus-calcium metabolism. At the same time, there is a risk of iatrogenic hypercalcemia on the standard therapy, up to the hypercalcemic crisis, often complicated by the acute renal failure. Moreover, chronic hypercalcemia acts as a predisposing factor for nephrolithiasis, nephrocalcinosis, chronic renal failure including pre- and dialysis stages.Dihydrotachysterol is a synthetic analogue of vitamin D, which was previously widely prescribed for hypocalcaemic hypoparathyroidism. In accordance with modern Russian and international guidelines, this drug should not be used in the treatment of chronic hypoparathyroidism. The main features in the metabolism of dihydrotachysterol (long elimination period, lack of feedback regulation of the active metabolites, high biological activity) and a narrow therapeutic window cause the frequent development of hypercalcemia and associated disorders.We present several clinical cases of patients with hypoparathyroidism treated with dihydrotachysterol, which was complicated by severe hypercalcemia and acute renal failure.

Hypercalciuria is a pathological condition characterized by an excess of daily calcium excretion. A high concentration of urine calcium can initiate stone formation. There are several types of hypercalciuria, each requires an individual approach. In the absence of known causes of development, idiopathic hypercalciuria is a frequent dysmetabolic disorder defined as an excess urine calcium excretion with normocalcemia. Resorptive hypercalciuria most often develops due to primary hyperparathyroidism and is caused by elevated PTH and excess release of calcium from bone stores. A thiazide test can be used for differential diagnosis between these conditions. We present a series of clinical cases covered the thiazide test in outpatient practice. The definitive diagnosis is extremely important because it determines the optimal treatment strategy. Secondary hyperparathyroidism (an increase in parathyroid hormone as a result of vitamin D deficiency, chronic renal failure or other conditions) requires medical therapy, while the primary hyperparathyroidism is radically cured only after surgical intervention.Taking into account the prevalence of idiopathic hypercalciuria and primary hyperparathyroidism, it is actual to use the thiazide test more widely in clinical practice.

Oncogenic osteomalacia is an orphan disease caused by the overproduction of fibroblast growth factor 23 (FGF23) in tumors, which leads to impaired bone matrix mineralization. Typical laboratory changes are hypophosphatemia, increased alkaline phosphatase, hyperphosphaturia, and decreased tubular phosphate reabsorption index. Surgery is the treatment of choice to eliminate an excessive production of FGF23. If surgical intervention is ineffective or impossible, preparations of phosphorus, calcium, vitamin D are prescribed. We present a clinical case of the stage-bystage diagnosis and treatment of the patient with chronic pain syndrome in the bones and multiple fractures.

Patients with chronic kidney disease are characterized by the development of mineral disorders due to a decrease in the number of functioning nephrons. These changes manifest by the development of secondary hyperparathyroidism (the overproduction of intact parathyroid hormone (PTH) associated with the serum hypocalcemia, hyperphosphatemia), dysfunctional vitamin D metabolism, bone mineralization and also extraosseous calcifications. Decreased serum PTH levels associated with hypercalcemia are suspicious for adynamic bone disease, but at the same time requires an extended differential diagnostic search (e.g. metastatic processes). One of the rare causes of hypercalcemia is a defect in 24-hydroxylase (CYP24A1). We present a case of a patient on hemodialysis with atypical secondary hyperparathyroidism and an established CYP24A1 defect.

Introduction. Primary hyperparathyroidism is one of the most common diseases of the endocrine system, after diabetes mellitus and thyroid pathologies. Early diagnosis and treatment of primary hyperparathyroidism allow avoiding severe damage to the bones, kidneys, other organs, thereby reducing the incidence of disability and improving the patients quality of life. The only radical treatment for primary hyperparathyroidism is the surgical removal of the pathologically altered, hyperfunctioning parathyroid glands.The study objective – to increase the efficiency of preoperative topical diagnosis and intraoperative navigation of parathyroid glands.Materials and methods. 200 patients with laboratory-verified primary hyperparathyroidism, who underwent preoperative topical diagnostics (ultrasound, planar scintigraphy and single-photon emission computed tomography, combined with computed tomography (SPECT / CT), in some cases supplemented with contrast enhanced CT with / or fine needle aspiration biopsy with flushing from a needle on for parathyroid hormone) and received surgical treatment, in period from 2017 to 2020. A single-stage, open-label comparative study was carried out, including clinical, laboratory and instrumental data of patients. The follow-up period after surgery for primary hyperparathyroidism was at least 6 months.Results. From 200 included patients, surgical treatment in the amount of minimally invasive parathyroidectomy was performed in 189 patients. As a result of the analysis of the diagnostic accuracy, for a combination of ultrasound and SPECT/CT with augmented contrast enhanced CT, the overall accuracy in visualizing of parathyroid glands was 99 % (95 % confidence interval (CI): 97–100), diagnostic specificity 77 % (95 % CI: 54–100), sensitivity 100 % (95 % CI: 98–100), the predictive value of positive and negative results was 98 % (95 % CI: 97–100) and 100 % (95 % CI: 98–100) respectively.Conclusion. The results allowed us to develop an algorithm for preoperative topical diagnosis of parathyroid glands in patients with laboratory-verified primary hyperparathyroidism and indications for surgical treatmen. We recommend to perform ultrasound of the thyroid and parathyroid glands in all patients at the first stage, in the absence of evident changes in the thyroid gland, at the second stage – scintigraphy and SPECT / CT with 99mTc-MIBI; in cases with significant concomitant functional or structural pathology of the thyroid gland – contrast enhanced CT; if necessary, supplementing fine needle aspiration biopsy with flushing from a needle on for parathyroid hormone.

Background: The main components of mineral metabolism can influence non-classical target organs such as adipose tissue, pancreas, vascular wall. The «metabolic» effects of parathyroid hormone (PTH) and other participants of phosphorus-calcium metabolism in the hyperfunction of parathyroid glands remain unclear. The study of disorders of carbohydrate, fat and other types of metabolism in primary hyperparathyroidism (PHPT) will help to develop effective measures for prophylaxis and treatment of the patients in order to improve the quality and life span of the population.Aim: To study the main parameters of metabolism in young patients with an active stage of PHPT before surgical treatment.Materials and methods: A one-stage comparative study of young patients with PHPT and healthy volunteers matched by sex, age and body mass index (BMI) was carried out. The participants underwent a comprehensive biochemical and hormonal examination, a hyperinsulinemic euglycemic clamp and a bioimpedance analysis of the body composition.Results: 21 patients with PHPT and 18 healthy volunteers were included in the study. Patients with PHPT have higher level of serum triglycerides (p=0.003) without statistically differences of the main carbohydrate and purine parameters comparing with the control group. Visceral obesity were revealed in 42.9% of patients, including those with a normal BMI. Insulin resistance in the PHPT group was noted in 52.4% of cases, while the M-index was statistically lower than in the control subgroup (p=0.008), despite of the comparable body composition of the participants. The M-index showed a positive correlation with blood phosphorus level (p=0.010) only in the general group. Statistically positive correlations of PTH, albumin-corrected calcium and osteocalcin with triglyceride levels, calcium with fasting glycaemia, and PTH with uric acid levels were determined.Conclusion: PHPT is associated with insulin resistance in patients that is the main risk factor for the development of serious carbohydrate and fat disorders. The positive correlation of PTH and blood calcium levels with triglycerides, as well as the tendency to hypertriglyceridemia comparing with healthy volunteers, suggest the disease effect on the development of dyslipidemia.

Idiopathic hypoparathyroidism is a rare endocrine disease diagnosed when all possible causes of hypoparathyroidism are excluded.Data on the prevalence of idiopathic hypoparathyroidism is limited, there are several local studies in some countries. The variety and non-specificity of the hypoparathyroidism symptoms, similarity to other diseases (eg. epilepsy), causes the misdiagnosis and delay in pathogenetic therapy.Idiopathic hypoparathyroidism is rare. Therefore, the absence of neck surgery in the anamnesis practically excludes hypoparathyroidism from the diagnostic search. Moreover, it is necessary to rule out all known causes of decreased PTH hypoparathyroidism to determine the form of non-surgical hypoparathyroidism.We present a case series of idiopathic hypoparathyroidism, which demonstrates the difficulty in diagnosis, and the clinical features of the disease. The article covers also the problem of modern diagnostic approaches including the determination of the interferon-omega for patients with suspected autoimmune polyglandular syndrome type 1 as the most common cause of nonsurgical hypoparathyroidism.

Hypoparathyroidism is a rare endocrine disorder characterized by hypocalcemia and hyperphosphatemia, due to absent or inappropriately low serum parathyroid hormone (PTH) levels. The chronic postoperative hypoparathyroidism accounts approximately 75% of patients; the genetic, autoimmune or idiopathic forms are significantly less common. Today, chronic hypoparathyroidism remains the last major endocrine deficiency, for which hormonal replacement therapy has not found widespread use. Achieving the target levels of phosphorus-calcium metabolism is an important factor of the disease control, required for the prevention of short- and long-term complications. The standard therapy with active metabolites/analogues of vitamin D (­alfacalcidol, calcitriol) and calcium supplements does not always allow to achieve the target treatment goals. Despite high doses of calcium and active vitamin D, some patients suffer from unstable calcium levels and associated symptoms.The measurement of serum calcium and phosphorus in the early morning hours remains the main laboratory tests for such patients, but in sometimes this diagnostic approach does not really reflect the true picture.The presented clinical cases describe the changes of both hyper- and hypocalcemia within one day in patients with chronic postsurgical hypoparathyroidism managed by standard therapy.

Hypoparathyroidism is a rare disorder of mineral metabolism, characterized by hypocalcemia as a result of the absence or deficiency of parathyroid hormone. The severity of the condition of patients with this disease is associated with both acute episodes of hypocalcemia due to cardiac arrhythmias, laryngo- or bronchospasm, generalized seizures, and manifestations of long-term complications of the disease, such as kidney pathology. In some cases, the normalization of phosphorus-calcium metabolism due to standard treatment with active metabolites / analogues of vitamin D and calcium salts does not lead to a reduction in clinical symptoms, which requires differential diagnosis with other conditions, including such neuropsychiatric disorders as epileptic seizures and their equivalents, syncope, and psychogenic nonepileptic seizures. We present a case report of a woman with convulsions, which developed due to dissociative (conversion motor) disorder, with chronic postoperative hypoparathyroidism, receiving standard treatment and having normo- and hypercalcemia.

Mineral and bone disorders in chronic kidney disease (CKD) is a systemic disorder of mineral and bone metabolism due to CKD manifested by either one or a combination of the following: abnormalities of calcium, phosphorus, PTH, or vitamin D metabolism (secondary hyperparathyroidism); abnormalities in bone turnover, mineralization, volume, linear growth, or strength; or vascular or other soft tissue calcification. Decreasing 1,25(OH)2D (calcitriol) and rising parathyroid hormone (PTH) levels occur on early stages of CKD. Secondary hyperparathyroidism contributes to the high morbidity and mortality noted in this population. Long-term decompensation of secondary hyperparathyroidism in patients with impaired renal function leads to irreversible changes in multiple organ systems, resistance to conservative treatment and the requirement for surgical intervention. Suppress of renal CYP27B1 and the calcitriol deficiency play a major role in the development of mineral and bone disorders in CKD, thus VDR activators are widely used for management of secondary hyperparathyroidism. These medications are effective in suppression of PTH and demonstrate the positive effects on bone metabolism. There is evidence of pleiotropic effects of VDR activators that are crucial for the prevention of renal fibrosis and extraskeletal calcification. This review focuses on the involvement of vitamin D in the pathogenesis of mineral and bone disorders and the role of paricalcitol in their correction. The efficacy of paricalcitol in patients with various stages of CKD has been evaluated in a large number of observational and randomized clinical trials, the comparative effectiveness of paricalcitol therapy has been summarized in several metanalyses.

Primary hyperparathyroidism (PHPT) is a result of the parathyroid tumors, usually manifesting by elevated serum parathyroid hormone and hypercalcemia. One of the most common complications of PHPT are bone disorders. It mainly occurs as sporadic disease, while the remaining 5–10% is the component of hereditary syndromes, more often – type 1 multiple endocrine neoplasia syndrome (MEN1). MEN1 is caused by the germinal mutation of the oncosuppressor menin gene, founded in all cells of the human body, including the osteogenic cells. Data on the bone state in MEN1 is limited and contradictory. At the same time, some studies indicate that MEN1-related PHPT differs from sporadic form in bone manifestation, which can be presumably associated with the inadequate functioning of mutant menin. The results of experimental works suggest that menin plays an important role in the metabolism and differentiation of bone cells. This article is a literature review on this problem and contains information on the current clinical data on the bone state in patients with MEN1.

Adrenal insufficiency (AI) is a syndrome caused by disturbance in the synthesis and secretion of hormones of the adrenal cortex, which ensure the vital activity, energy and water-salt homeostasis. The widest hormonal deficiency is observed in primary hypocorticism, when the synthesis of not only glucocorticoids (GC) and adrenal androgens, but also mineralocorticoids is disrupted. Lifelong replacement therapy with GCs for this pathology may be associated with a risk of bone loss and osteoporosis. However, at present, there are no clear guidelines for diagnosis of bone condition, including and bone mineral density (BMD) monitoring during treatment with GCs in patients with AI. This review summarizes collected data on the key pathogenetic links of glucocorticoid-induced osteoporosis, incidence of decreased BMD and fractures in patients with AI. In this review factors that influence bone metabolism in this cohort of patients are considered: the type and the dose of prescribed GCs, the type (primary, secondary, HH in congenital adrenal cortex dysfunction) and the duration of AI, age, gender, and the presence of concomitant endocrine disorders (hypogonadism, growth hormone (GH) deficiency). In addition, the review presents data on the effect of adrenal androgen replacement therapy and recombinant GH therapy on bone metabolism in secondary AI.

Aim.To study an activity of the Renin-Angiotensin-Aldosterone System (RAAS) components in patients with primary hyperparathyroidism (PHPT) before and after parathyroidectomy (PTE). Materials and methods.A comparative study of patients with PHPT and control group. The first stage of the study included 56 patients with PHPT (group 1) before and on the third day after PTE. The second stage was carried out in 27 patients with remission of PHPT (group 2). All patients and healthy volunteers were tested for the main parameters of phosphorus-calcium metabolism and the RAAS parameters (plasma renin activity PRA, serum aldosterone, angiotensin II AT II). Results.Patients with active PHPT demonstrated changes in RAAS activity (lower PRA, higher AT II level) comparing to control group, that have statistical significance in group 1 (p0.001 for both parameters). There were no significant differences in aldosterone levels (p1=0.090;p2=0.140). On the third day after PTE (group 1), a decrease in aldosterone level (p=0.009) and a tendency to decrease in PRA (p=0.030) were detected. However, an increase in PRA (p=0.018), a decrease in AT II concentration (p=0.032) comparing to the initial values and their normalization were observed 12 months after surgery when permanent normal serum calcium and PTH levels had been achieved. There were controversial correlations between the parameters of phosphorus-calcium metabolism and RAAS. The influence of angiotensin-converting-enzyme inhibitors and AT II receptor blockers on phosphorus-calcium metabolism in patients with PHPT was not observed. Conclusion.In patients with PHPT, there were no сlear correlations of phosphorus-calcium metabolism parameters with RAAS, however an increase of AT II concentration was noted, that can take part in a development of hypertension for this endocrinopathy. PTE can have a positive effect on AT II level.

Parathyroid hormone (PTH) is the main regulator of calcium and phosphorus metabolism. PTH deficiency or tissue resistance to its effects results in hypoparathyroidism characterized by low serum calcium and elevated serum phosphate levels. The most common is post-operative hypoparathyroidism caused by an inadvertent damage or removal of the parathyroid glands, deterioration of blood supply to the neck region, most often during thyroid surgery. The second common form of the disease is the autoimmune one related with immune destruction of parathyroid cells. Less frequent causes of hypoparathyroidism include a variety of genetic syndromes, mitochondrial genome defects, and hypomagnesemia. The main signs and symptoms of hypoparathyroidism are related to hypocalcaemia and hyperphosphatemia land result in increased neuromuscular irritability and general autonomic reactivity, with finger and toe tingling, muscle cramps, tonic seizures, laryngo- and bronchospasm, and neurosis. These symptoms are closely associated with serum calcium levels; their severity depends on the degree of hypocalcaemia. Laboratory parameters confirming the diagnosis of hypoparathyroidism are hypocalcaemia, hyperphosphatemia, and reduced serum PTH. Treatment of hypoparathyroidism involves management of hypocalcaemic crisis and maintenance therapy. Acute hypocalcaemia, a potentially life-threatening condition, is treated as an emergency with intravenous calcium combined with oral calcium and active vitamin D. Standard chronic treatment for hypoparathyroidism is based on oral calcium and active metabolites of vitamin D / vitamin D analogs and is aimed at the balance between optimal low-normal serum calcium concentrations and normocalciuria. Worsening hypercalciuria is often underestimated by specialists, although it can cause severe renal problems, such as nephrocalcinosis and neprolithiasis. Hypoparathyroidism is one of the few endocrine deficiencies for which replacement treatment with recombinant PTH is not widely used. Replacement therapy with recombinant human PTH is a promising area, especially in severe clinical cases, refractory to conventional treatment.

Allgrove syndrome is a rare autosomal recessive disorder characterized by the achalasia, alacrimia, adrenal insufficiency, which gave the additional and more recognizable name of this pathology – “Triple-A syndrome”. The clinical presentation of classical signs and symptoms of the syndrome is dependent on the age of the patient. Ophthalmological abnormalities are usually present at birth, whereas adrenal and gastrointestinal abnormalities are apparent after six months to the first decade of life. Neurological dysfunction from the involvement of central or autonomic nervous systems is also common with Allgrove syndrome observed during the adolescent period. Genetic analysis and detection of the AAAS gene mutation is the main step in the diagnosis of the syndrome. The presented clinical case will demonstrate the difficulties in making a diagnosis, choosing a treatment strategy for a patient with a long history of Allgrove syndrome.

Background. Currently, there is no consensus on postoperative risk stratification for parathyroid cancer (PC). The risk factors of disease progression are crucial for choosing the optimal treatment strategy, including adjuvant methods and patient,s follow-up. Aim. Identifying predictors of PC recurrence Materials and methods. We performed a retrospective observational study of 85 patients with verified PC divided into remission (n=61) and recurrence (n=19) groups after primary surgical treatment for the period 2004–2023. The analyzed parameters included demographic, laboratory and instrumental data of patients with PC, the presence of a mutation in the CDC73 gene, morphological and immunohistochemical characteristics of the primary tumor. Results. After adjustments for multiple comparisons, a statistically significant association of recurrence was found for preoperative calcium level (p0.001), pT4 stage (p0.001) according to TNM-classification (Tumor, Nodus, Metastasis) American Joint Committee on Cancer 2017. There was a statistical trend for calcium correction for hypoalbuminemia (p=0.002), presence of nephrolithiasis/nephrocalcinosis (p=0.021), parathyroid hormone level 6 months after primary surgery (p0.05), pT3 stage TNM (p=0.007), nuclear expression of parafibromin in tumor tissue (p0.05). We did not reveal any associations between disease recurrence and sex, age, volume of surgical treatment, germline mutation in the CDC73, parafibromin expression and Ki-67 in tumor tissue. Conclusion. Our study revealed several factors of poor prognosis, allowing to identify a risk group for recurrence, which can contribute to active dynamic monitoring and timely treatment.

IntroductionCardiovascular diseases (CVD) and metabolic disorders (MD) have retained leading positions in the structure of morbidity and mortality for many years. Primary hyperparathyroidism (PHPT) is also associated with a greater incidence of CVD and MD. The aim of the present study was to describe the prevalence and structure of CVD and MD in hospitalized patients with PHPT and to search for possible associations between these pathologies.Methods838 patients with a verified PHPT were included in the study. The studied cohort was divided into 2 groups according to their age at the time of admission: patients aged 18 to 49 years (group A, n = 150); patients aged 50 years and older (group B, n = 688).ResultsThere were no significant differences between two groups in parameters of calcium-phosphorus metabolism. Obesity was diagnosed in 24.2% of patients in group A and in 35.9% in group B. Type 2 diabetes mellitus was more common in older patients (14.4% in group B vs. 2.6% in group A). Arterial hypertension, ischemic heart disease, chronic heart failure and brachiocephalic arteries atherosclerosis were more frequent in older patients, occurring in 79.1%, 10.8%, 8.4%, and 84% of cases respectively. The cutoff points that increased the risk of CVD detection turned out to be age above 56 years, eGFR below 92 ml/min/1.73m2, BMI above 28.3 kg/m2.DiscussionThe present study demonstrated a high incidence of some CVD, as well as disorders of lipid, carbohydrate and purine metabolism in patients with PHPT.

IntroductionUntil recently no major epidemiological research of primary hyperparathyroidism (PHPT) has been conducted in the Russian Federation, this led to the creation of the Russian online registry. The objective of this study is to estimate the clinical and biochemical profile, classical and non-classical complications, surgical intervention and medical therapy of the patients with different forms of PHPT in the Russian Federation.Materials and methodsThe cross-sectional, observational, continuous study was conducted at the Endocrinology Research Centre (Moscow). The present study explored retrospective data from 6003 patients submitted to the Registry between 12.12.2016 and 25.10.2022 from 81 regions of the Russian Federation (http://pgpt.clin-reg.ru/).ResultsThe median age was 59 [60; 66] years with a female:male ratio of 11.7:1. Symptomatic PHPT was observed in 74.3% while asymptomatic form - only in 25.7% of cases. Bone pathology was the predominant clinical manifestation in 62.5% of cases (n=2293), mostly in combination with visceral complications 45.7% (n=1676). The majority of patients (63.3%) had combined visceral disorders including kidney damage in 51.8% and gastroduodenal erosions/ulcers in 32.3% of patients. Symptomatic patients were older (60 [53; 67] vs. 54 [45; 62] years, p

The parathyroid glands are the most important regulators of mineral metabolism. The parathyroid glands were first discovered only in 1880 and their function went the long way unrecognized. Even the term "parathyroid gland" itself speaks of the initial misconception of it as an underdeveloped part of the thyroid. To date, there is a large amount of data regarding the role of this endocrine gland in the human body and the significant changes associated with their dysfunction, including such widespread diseases such primary, secondary and tertiary hyperparathyroidism, hypoparathyroidism. This review covers the problem of the main disturbances in calcium-phosphorus metabolism, presents the results of databases of patients with primary hyperparathyroidism and hypoparathyroidism, as well as current epidemiological trends in Russia and in the world.

Aim. To compare advanced glycation end-products (AGE, RAGE) and 3-nitrotyrosine (3-HT) in patients with DM 1 after successful simultaneous pancreas-kidney transplantation (SPK) and kidney transplantation alone (KTA). To assess relationship between levels of AGE, RAGE, 3-HT and renal transplant (RT) function, carbohydrate and mineral metabolism. Materials and methods. The study included 58 patients who received kidney transplantation in end-stage renal disease (ESRD). 36 patients received SPK. There were performed routine laboratory, examination of AGE, RAGE, 3-NT, parathyroid hormone (PTH), 25(OH)vitamin D, calcium, phosphorus, FGF23, osteoprotegerin (OPG), and fetuin-A levels. Results. All patients after SPK reached normoglycemia (HbA1c 5.7 [5.3; 6.1] %; C-peptide 3.24 [2.29; 4.40] ng/ml) with the achievement of significant difference vs patients after KTA. Arterial hypertension (AH) was more frequent in recipients of SPK before transplantation than after (p=0.008). AH also persisted in greater number of cases in patients after KTA than after SPK. Patients after SPK had higher AGE (р=0.0003) and lower RAGE (р=0.000003) levels. OPG in patients after SPK was significantly higher (р=0.04). The correlation analysis revealed significant positive correlation between 3-HT and OPG (p0.05; r=0.30), RAGE and eGFR (r=-0.52), HbA1c (r=0.48), duration of AH (r=0.34), AGE with HbA1c (r=0.51). Conclusion. The results of the "metabolic memory" markers analysis may indicate their contribution to the persistence of the metabolic consequences of CKD and DM 1 after achievement of normoglycemia and renal function restoration and their possible participation in development of recurrent nephropathy, vascular calcification, and bone disorders.

The clinical picture of primary hyperparathyroidism (PHPT) which caused by parathyroid neoplasms often includes metabolic syndrome leading to the development of cardiovascular diseases. According to clinical studies, an increased incidence of diabetes mellitus, insulin resistance, obesity, dyslipidemia, hyperuricemia and other disorders that signifi tly affect the life span and quality are observed in patients with PHPT regardless of the form and the severity of the underlying disease. Basic research shows the potential nonclassical effects of high levels of parathyroid hormone and calcium on adipose tissue, pancreas, gastrointestinal tract and kidneys. However, the pathogenetic mechanisms of impaired carbohydrate and other types of metabolism in patients with parathyroid hyperfunction remain unclear because of the lack of relevant experimental models and the heterogeneity of patient groups. Besides, the effect of surgery on metabolic abnormalities is also controversial. Nowadays a deeper understanding of this issue is required, which can subsequently help in the creation of optimal approach to diagnosis and treatment of patients. This review covers different aspects of metabolic disorders in patients with PHPT, as well as potential key factors of their development.

Background: mild hypocalcemia is a common laboratory finding that is not accompanied by the clinical symptoms. The most common causes of hypocalcemia are inadequate calcium intake and vitamin D deficiency. Given the high prevalence of vitamin D deficiency (insufficiency), it seems relevant to determine the daily variability of serum calcium levels before and after its supplementation.Aims: to assess the effect of 25(OH) vitamin D level on the daily profile of serum calcium and 24-hour urinary calcium levels. MATERIALS AND METHODS: the interventional, prospective, comparative study of 10 healthy volunteers (women/men - 9/1) was performed. We have analyzed the daily profiles of serum calcium and 24-hour urinary calcium levels. Summary duration of this study was 8 months and consisted two hospitalizations. Statistical analysis was done on August 2020. The descriptive statistics are represented by medians and the first and third quartiles in Me (Q1; Q3), average, maximum, and minimum values M (min; max) and by absolute and relative frequencies.Results: Me serum calcium levels (Catotaland Cacorr.) and 24-hour urinary calcium levels did not differ before and after vitamin D supplementation. However, the number of reference calcium values increased as 25 (OH) vitamin D level was reached more than 30 ng/ml from 90.8% to 100% for Catotal and from 94.2% to 97.5% for Cacorr. Episodes of hypocalcemia were registered in patients with low vitamin D levels: in 3.33% of cases according to Catotal and 5.8% for Cacorr. The frequency of hypocalcemia decreased for Catotal (to 0%) and for Cacorr. (to 2.5%) after treatment with cholecalciferol. Analysis of Catotal and Cacorr. deviations during the day showed a less variability of the calcium profile after treatment, This study also revealed circadian character of daily serum calcium profile with the presence of maximum (09:40-17:40) and minimum (23:40-07:40) values during the day.Conclusions: Our study demonstrated the improvement of daily serum calcium profile after vitamin D supplementation. We confirmed the increased number of reference calcium values, decreased variability of serum calcium levels during the day and decreased frequency of hypocalcemia.

Osteomalacia is a systemic bone disease, characterized by an excessive accumulation of non-mineralized osteoid and an imbalance in the organic matrix formation and mineralization. A rare cause of disease is tumor-induced osteomalacia, most often due to phosphaturic mesenchymal tumors (PMT). Usually there are benign small tumors, affecting the soft tissues and bones of any location. The basic pathogenesis of underlying oncogenic osteomalacia is a decreased renal tubular reabsorption of phosphate consequent to hyperproduction of fibroblast growth factor 23 in PMT. Clinical features are nonspecific, the average period from the symptoms onset to diagnosis reaches 3 years and at least 5 years before surgical treatment. Finding the tumour is crucial, as complete removal is curative. We present a clinical case of tumor-induced osteomalacia due to PMT required the complex differential diagnosis with other rare diseases.

In addition to the classical symptoms such as osteoporosis, renal stones and gastric ulcers primary hyperparathyroidism (PHPT) could be presented with non-classical manifestations, including muscle and joint pathology. Moreover, in some cases the articular and neuromuscular impairment might be the main signs of the disease. Despite the long research history the true prevalence of these PHPT complications remains unknown. Discrepancies in studies results may be due the non-specific and different symptoms that patients complain about, various study design, uncorrected comorbid conditions, the different PHPT populations, a wide methods variety in the assessment of neuromuscular and articular involvement. However, the underestimated muscle dysfunction and joint damage can lead to decreased quality of life and disability, primarily from fragility fractures. In the majority of the studies parathyroidectomy improved muscle strength, but there is no clear results for articular manifestations. Basic research and large randomized control trials are limited. The main goal of this review is to summarize currently available data on muscle and joint involvement in patients with PHPT.