Problems of Endocrinology最新文献

{"title":"Klinefelter syndrome in children and adolescents","authors":"Darya A. Bespalyuk, I. Chugunov","doi":"10.14341/probl9840","DOIUrl":"https://doi.org/10.14341/probl9840","url":null,"abstract":"Klinefelter syndrome is a chromosomal pathology, which is the most common anomaly of sex chromosomes and the most common form of primary male hypogonadism. The presence of an extra X-chromosome in the karyotype causes infertility, azoospermia, small size of testicles, high level of gonadotropins and low level of testosterone, tallness and disproportionate physique, learning difficulties, and developmental speech disorders. Despite the high incidence of the syndrome in the population, only 25% of patients are aware of their disease during their lifetime. Late diagnosis and delayed treatment are often due to pronounced clinical polymorphism of the disease, different symptom onset time, as well as high incidence of associated conditions, so that these patients are followed by various specialists, but they are not aware of the main diagnosis. \u0000This review presents data on the history, etiology of the syndrome, clinical and laboratory features characteristic of children, adolescents, and adults. The most common associated diseases are listed and current data on their prevalence and the effect of testosterone replacement therapy on these conditions are provided.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123305593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kisspeptin regulation of male sex development: possibilities of diagnosis and treatment of delayed puberty and hypogonadotropic hypogonadism","authors":"I. Nikitina, Y. N. Yuchlina, E. Vasileva, I. I. Nagornaya","doi":"10.14341/probl9360","DOIUrl":"https://doi.org/10.14341/probl9360","url":null,"abstract":"Background. Kisspeptin system plays an important role in the neuroendocrine control of gonadotropin secretion, sexual differentiation of the brain, puberty, and fertility. \u0000Objective — the study was aimed at assessing blood level of Kisspeptin in healthy boys, depending on puberty stage, as well as in boys with pathological delay of puberty onset. \u0000Material and methods. The study included 43 somatically healthy boys. Group 1 consisted of 12 boys 14—17 years old with delayed puberty, group 2 included 16 boys 14—18 years old with normal puberty, Tanner stage IV — V, group 3 — 15 boys 6—10 years old, Tanner stage I. In group 1, median testosterone level (T) was 0.09 nmol/l, LH — 0.3 IU/l; the peak LH level in the triptorelin test was below 5 IU/l in 50% of this group. Serum level of kisspeptin was assessed by ELISA using a specific kit. \u0000Results. Median serum level of kisspeptin (34.8 pg/ml) was significantly (p>0.05) higher in in the group with delayed puberty than in the groups with age-appropriate sexual development. There were no differences between groups 2 and 3 in this value. \u0000Conclusion. Serum level of kisspeptin, which is low in the case of physiological sexual development (regardless of stage), significantly increases in boys with delayed puberty onset, which can be used as a diagnostic marker of this pathology. The results suggest attenuated effect of kisspeptin due to decrease in its biological activity or decrease in sensitivity of the kisspeptin receptors in the case of delayed puberty and hypogonadism. The possibility of treatment of male hypogonadism with exogenous kisspeptin cannot be ruled out.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117046642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ACTIVE CONSTITUENTS OF PLANTS WITH HYPOGLYCEMIC POTENTIALS","authors":"R. Fayzullina, A. Akhmetyanova, N. Kudashkina","doi":"10.14341/PROBL9506","DOIUrl":"https://doi.org/10.14341/PROBL9506","url":null,"abstract":"Now in medical community are even more often discussed such concept as the complementary medicine (CM) and its integration into conventional medicine. One of the most widespread directions of CM is phytotherapy which is regulated by allowing documentation of bodies of health care and consequently it is included in conventional medicine. A serious problem of world health care is the diabetes mellitus. According to data of the International Diabetes Federation (IDF) for 2015, in the world there are 415 million people have the diagnosis a diabetes mellitus and by 2040 increase in number of patients up to 642 million. In Russian Federation 12,1 million people are sick a diabetes mellitus. For prophylaxis and at early stages of development of a diabetes mellitus of the 2nd type phytotherapy is recommended. Now there is the active searching of plants with hypoglycemic activity. The pharmacological effect of plants is caused by the biologically the active materials (BAM) which are their part which are very various on structure and, respectively, on the effect which had by them. The review of results of the researches confirming presence of hypoglycemic activity at the BAМ, most widespread in flora is provided in article (phenolic substances, polysaccharides, alkaloids, etc.), mechanisms of their action are described. The submitted data demonstrate that from a position of evidential medicine searching and development of the new means of a phytogenesis allowing to expand the range of the medicines applied at a diabetes mellitus are expedient. At the same time the greatest effect of phytotherapy can be reached when using the multicomponent herbal teas containing a larger range of BAM in comparison with individual plants that will allow to influence pathogenetic processes of a disease.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128093631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The features of cataract surgery in a patient with Graves’ disease and endocrine ophthalmopathy","authors":"D. Lipatov, N. Sviridenko, E. Bessmertnaya, A. Tolkacheva","doi":"10.14341/probl9431","DOIUrl":"https://doi.org/10.14341/probl9431","url":null,"abstract":"After the phacoemulsification technique was implemented in ophthalmic practice surgeries to replace the clouded lens have become routine for ophthalmologists. Today, over half a million phacoemulsification surgeries are annually conducted in Russia. Cataract combined with endocrine ophthalmopathy poses a significant challenge for an operating surgeon because of the unusual anatomical presentation of the orbit and the eyeball, as well as the elevated intraocular pressure caused by edema of the orbital tissues (i.e., retrobulbar tissue and extraocular muscles) rather than by primary glaucoma. \u0000We analyze the features of surgical treatment of the cataract involving intraocular lens implantation in a patient with Graves’ disease and endocrine ophthalmopathy complicated by secondary ocular hypertension, optical neuropathy, and lagophthalmos. \u0000After restoring the euthyroid state and reducing the severity of endocrine ophthalmopathy, phacoemulsification was performed in both eyes, with an interval of 2 months. Neither intra- nor postoperative complications of the patients’ organ of vision were observed. The maximum corrected visual acuity achieved on both eyes was 0.4–0.5 in the Snellen eye chart.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"39 24","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120813170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The interaction between polyphenols and food proteins: prospects for diet therapy of metabolic syndrome and type 2 diabetes mellitus","authors":"V. Mazo, N. Petrov, V. Sarkisyan, A. Kochetkova","doi":"10.14341/probl8774","DOIUrl":"https://doi.org/10.14341/probl8774","url":null,"abstract":"The use of minor biologically active components of food (flavonoids) as functional food ingredients for foods for special dietary uses is a promising trend in prevention and treatment of carbohydrate and lipid metabolism disorders resulting from the metabolic syndrome and type 2 diabetes mellitus. Unlike the in vitro studies that are conducted mainly on cell cultures, the results of clinical studies may be influenced by low bioavailability of polyphenols. This fact makes it impossible to reach the beneficial effects of polyphenols in some cases. Thus, the problem of polyphenol bioavailability enhancement is the main direction in producing highly effective specialized anti-diabetic food products. In this review, the interaction between proteins and polyphenolic compounds is discussed from the viewpoint of the potential to protect polyphenols against degradation in the digestive tract, to increase their stability and pharmacological activity compared to those of the conventional compositions. The problems of interactions between polyphenols and food proteins, digestive enzymes and cell transporters in the gastrointestinal tract have not been sufficiently covered in Russian academic publications. The studies focused on the mechanisms of interactions between polyphenols and proteins, considering the corresponding structural changes are of interest for predicting possible changes in their bioavailability. Polyphenol binding to proteins is influenced by the primary structure of a protein macromolecule, the spatial distribution of amino acid residues responsible for polyphenol binding, and some other parameters characterizing the conditions of interactions.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128065137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene-gene interactions and the contribution of polymorphic loci of the KCNJ11, ADIPOQ, omentin, leptin, TCF7L2 and PPARg genes to the development of type 2 diabetes mellitus in the Kyrgyz population: a case-control genetic association study using MDR analysis","authors":"Zh. T. Isakova, E. Talaibekova, Baktygul Zh. Zhyrgalbekova, E. Mirrakhimov, N. Aldasheva, A. Aldashev","doi":"10.14341/probl8344","DOIUrl":"https://doi.org/10.14341/probl8344","url":null,"abstract":"There are many genetic loci associated with type 2 diabetes mellitus (T2DM). The genetic factors involved in the development of the T2DM can depend on the nature of genetic variation within and across different ethnic groups. \u0000Aims — the aim of this study was to investigate the gene-gene interactions and to determine the role of the KCNJ11 (Glu23Lys), ADIPOQ (G276T), omentin (Val109Asp), leptin (G2548A), TCF7L2 (IVS3C/T), PPARg (Pro12Ala) genes in the development of type 2 diabetes mellitus (T2DM) in the Kyrgyz population using MDR analysis. \u0000Material and methods. We examined 114 patients (53 females and 61 males; mean age, 54±7.4) with T2DM and 109 apparently healthy controls (48 females and 61 males; mean age, 50±8.4). Polymorphisms of the KCNJ11 (Glu23Lys), ADIPOQ (G276T), omentin (Val109Asp), leptin (G2548A), TCF7L2 (IVS3C/T), PPARg (Pro12Ala) genes were defined by PCR-RFLP assay. \u0000Results. Among the six genes (KCNJ11, ADIPOQ, omentin, leptin, TCF7L2, PPARg) included in this study, the most significant contribution to the development of T2DM in the Kyrgyz population was detected for the ADIPOQ (2.17%) and KCNJ11 genes (2.01%). \u0000The heterozygous genotype G276T (OR=1.79 CI 95% 1.05—3.05; p=0.036) and the 276T allele (OR=1.68 CI 95% 1.09—2.60; p=0.025) of the ADIPOQ gene were associated with a high risk of developing T2DM in the Kyrgyz population. The 23Lys allele of the KCNJ11 gene was significantly associated with T2DM in the Kyrgyz population (OR=1.62 CI 95% 1.10—2.38; p=0.019). The allele and genotype frequencies of the omentin (Val109Asp), leptin (G2548A), TCF7L2 (IVS3C/T), PPARg (Pro12Ala) genes did not differ between the studied groups (p>0.05). \u0000Conclusions. In Kyrgyz population, the polymorphic loci Glu23Lys of the KCNJ11 gene, the 276T allele and genotype G276T of ADIPOQ are associated with T2DM. The omentin (Val109Asp), leptin (G2548A), TCF7L2 (IVS3C/T), and PPARg (Pro12Ala) genes alone do not have such a significant impact on the development of type 2 diabetes; they contribute to the phenotypic development of T2DM mainly due to gene-gene interactions.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115142169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression of transcription and growth factors and the AKT/m-TOR signaling pathway components in papillary thyroid cancer","authors":"L. Spirina, S. Chizhevskaya, I. Kondakova","doi":"10.14341/PROBL9310","DOIUrl":"https://doi.org/10.14341/PROBL9310","url":null,"abstract":"Background: The molecular mechanism of thyroid cancer development is associated with changes in expression of transcription factors and growth factors accompanied by modified level of the AKT/m-TOR components. \u0000Aims. The aim of study was to determine NF-κB p65, NF-κB p50, HIF-1α, HIF-2α, VEGF, CAIX, VEGFR2 expression and mRNA level of the AKT/m-TOR signaling pathway components in papillary thyroid cancer compared to those in benign lesions. \u0000Material and methods: Forty patients aged 33—66 years with T1-4N0-2M0 papillary thyroid cancer (7 males and 33 females) were enrolled in the study. The mean age was 52.0±2.6 years. The comparison group included patients with benign lesions of thyroid tissue (4 males and 18 females) aged 38—66 years (mean age, 53.0±4.4 years). Expression levels of NF-κB p65, NF-κB p50, HIF-1α, HIF-2α, VEGF, CAIX, VEGFR2, and the AKT/m-TOR signaling pathway components were determined by RT-PCR using specific primers. \u0000Results: Increased expression of transcription factors NF-κB and HIF-2α was found in papillary thyroid cancer. The levels of AKT and PTEN mRNA were elevated in transformed tissues. c-Raf expression was reduced 2.1-fold in cancer compared to that in thyroid tissues with benign lesions. Multiple positive correlations were revealed between transcription and growth factors and the AKT/m-TOR signaling pathway components in cancer. An association between PTEN expression and the NF-κB mRNA level was revealed, being a sign of deregulation in the signaling cascade in cancer tissues. \u0000Conclusions: Overexpression of NF-κB, HIF-2α, AKT, PTEN and reduction of c-Raf expression is typical of thyroid papillary cancer.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128965225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health status of children conceived by assisted reproductive technologies: endocrinologist’s position","authors":"Z. S. Zyuzikova, N. Volevodz, O. Grigoryan, E. I. Degtyareva, I. Dedov","doi":"10.14341/PROBL9470","DOIUrl":"https://doi.org/10.14341/PROBL9470","url":null,"abstract":"Assisted reproductive technologies (ART) are currently widely used around the world because of the increased prevalence of infertility (presently, about 15% of married couples suffer from infertility), as well as the increased access to treatment and public funding for this method. Hence, the number of children conceived by ART is steadily increasing every year. \u0000This review focuses on the pressing problem of the health status of children conceived by assisted reproductive technologies (ART) by analyzing modern publications on the state of physical, gonadal and psychosomatic development, features of the endocrine system and cardiometabolic diseases, the risk of imprinting changes, congenital malformations and oncological disorders. \u0000The data presented that there is no increased risk of childhood cancer or deterioration in quality of life. However, it is expected that the cardiovascular and metabolic risk factors found in childhood can worsen in later life and may ultimately be responsible for chronic cardiometabolic disease. Furthermore, the issue of fertility, especially in the male population conceived by ART, remains open, thus requiring additional longer-term research.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116852776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuromediators and neuropeptides: the biomarkers for metabolic disturbances in obesity","authors":"I. Gmoshinski, S. Apryatin, V. Shipelin, D. B. Nikitjuk","doi":"10.14341/probl9466","DOIUrl":"https://doi.org/10.14341/probl9466","url":null,"abstract":"The role of biogenic amines (serotonin, dopamine) and neuropeptides in regulation of energy homeostasis of the organism and their role as markers of metabolic disorders in obesity (Ob) in animal experimental models and in clinical observations is reviewed. The energy homeostasis of the body is controlled via competition of alternative regulatory mechanisms that are mainly localized in the hypothalamus (HT). At the level of aminergic regulation, these are the serotonin and dopamine systems; at the level of the peptidergic system, these are NPY/AgRP and POMC/CART-related peptides. Opioid and cannabinoid receptors and their endogenous ligands closely linked to peptidergic and aminergic regulatory subsystems of the central nervous system ensure the connection between the «metabolic» regulation loop responding to a deficit or excess of energy substrates the «hedonistic» one associated with the body’s perception of pleasure from food consumption. The response of peptidergic and aminergic HT neurons to food and hormonal signals originating from the outside is based on the interaction between the corresponding ligands and G-protein-coupled receptors specific to them. Disruption or breakdown of the central mechanisms is considered to be one of the main pathogenetic factors of obesity and, simultaneously, the reason why reducing diet therapy proves inefficient or unstable. Partial permeability of the blood—brain barrier for neuropeptides makes them an attractive biomarker in the diagnosis of metabolic abnormalities in obese patients.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121772377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of combination of two autoimmune diseases: type 1 diabetes mellitus and systemic scleroderma in a 13-year-old girl","authors":"E. Titovich, E. Andrianova","doi":"10.14341/probl8600","DOIUrl":"https://doi.org/10.14341/probl8600","url":null,"abstract":"Systemic scleroderma is an autoimmune disease of the connective tissue of unknown etiology. It is characterized by skin induration, lesions in the musculoskeletal system and the internal organs, and the Raynaud syndrome. An important component in pathogenesis of systemic scleroderma is disturbance of microcirculation involving endothelial proliferation and destruction, wall thickening and narrowing of the microvessel lumen, vasospasm, hemocyte aggregation, stasis, deformation and reduction of the capillary network (obliterating microangiopathy). Two main forms of the disease are distinguished: the diffuse and localized ones. The systemic nature of the diffuse form of systemic scleroderma is most obvious in the skin, but the digestive tract, respiratory organs, kidneys and the cardiovascular, endocrine, musculoskeletal and genitourinary systems are also affected. The incidence rate of systemic scleroderma is 6.3—12 cases per million population. Single case reports on scleroderma combined with other autoimmune diseases, including type 1 diabetes mellitus, in children and adolescents are available in literature. A rare case of a combination of two autoimmune diseases, type 1 diabetes mellitus and systemic scleroderma, in a 13-year-old girl is reported in this paper.","PeriodicalId":342539,"journal":{"name":"Problems of Endocrinology","volume":"323 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124569779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}