Vol 58, No 5 (2012)

Metabolic disorders in the adult patients presenting with congenital adrenal hyperpl
Sazonova A.I., Troshina E.A., Molashenko N.V.
Abstract
A total of 55 patients at the age from 18 to 60 years presenting with the classical forms of congenital adrenal hyperplasia (CAH) were available for the estimation of the body mass index (BMI), measurement of AP, glycemia in OGTT, insulin level, HOMA index, and lipid content in blood sera. BMI ≥ 25 kg/m2 was documented in 56% of the women and in 47% of the men with CAH. Arterial hypertension occurred in 10% and 14% of the women and men respectively, disturbances of carbohydrate metabolism were diagnosed in 17% of the women and 7% of the men, but men alone suffered diabetes mellitus. 35% and 47% of the women and men presented with insulin resistance respectively. Dyslipidemia concomitant with CAH occurred in 69% of the women and 50% of the men. Disturbances of carbohydrate metabolism and arterial hypertension were largely associated with the elevated BMI while dyslipidemia in the first place correlated with the degree of CAH compensation. It is concluded that the patients with CAH are subject to the high prevalence of metabolic disorders. Special attention should be given to the patients with an excessive body mass and those having episodes of iatrogenic hypercorticism in their medical histories. Such patients most frequently exhibit a combination of metabolic disorders that constitutes a risk factor of the development of cardiovascular complications.
Problems of Endocrinology. 2012;58(5):3-9
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Peculiarities of the blood oxygen and antioxidant status in the children presenting with somatotrophic insufficiency and managed by the substitution treatment with growth hormone
Pankratova M.S., Iusipovich A.I., Vorontsova M.V., Kovalenko S.S., Baĭzhumanov A.A., Parshina E.I., Shiriaeva T.I., Maksimov G.V., Peterkova V.A., Dedov I.I.
Abstract
The present work was designed to study the influence of therapy with recombinant growth hormone on the oxygen and antioxidant blood status in the children presenting with somatotrophic insufficiency. A total of 11 children (2 girls and 9 boys) at the age from 3 to 9 years with confirmed somatotrophic insufficiency were available for the observation. They had never before been treated with growth hormone preparations. The blood oxyhemoglobin level and superoxide dismutase (SOD) activity increased within 3 months after the onset of therapy. There is direct correlation between oxyhemoglobin levels and SDS for the growth rate (r= 0.64; p<0.05) and negative correlation between mean hemoglobin content in erythrocytes (MHCE) and SDS for the growth rate (r=-0.69), p<0.05). The results of the study suggest the close relationship between the system of growth hormone/growth factors and the morphofunctional state of erythrocytes. It is concluded that the short-term treatment of the children suffering somatotrophic insufficiency with recombinant growth hormone appears to promote the development of adaptive mechanisms.
Problems of Endocrinology. 2012;58(5):10-15
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The results of analysis of the major epidemiological characteristics of primary hyperparathyroidism in Russia based on the registry data
Mokrysheva N.G., Rozhinskaia L.I., Peretokina E.V., Rostomian L.G., Mirnaia S.S., Pronin V.S., Markina N.V., Shebesheva E.N., Antsiferov M.B., Dedov I.I.
Abstract
The view of the clinical picture of primary hyperparathyroidism (PHPT) has essentially changed during the recent years under the influence of new data about its prevalence and the structure of the disease. The analysis of the database created at the Endocrinological Research Centre and including 1053 patients was used to obtain an epidemiological characteristics of various forms of PHPT recorded in Russia. PHPT morbidity in Moscow was estimated, based on the incidence of outpatient visits, to reach 0.05 per 1,000 adult population. This figure is significantly lower than that reported in foreign publications. The manifest form appears to be the most widespread form of PHTP in this country. The relative prevalence of the mild form has increased in the last years (till 2012) but does not exceed 28% or significantly lower than abroad where it is reported to prevail in the structure of PHPT morbidity. The asymptotic form accounts for 7.5% of all PHPT cases in the framework of type 1 multiple endocrine neoplasia syndrome (MEN-1) where it most frequently occurs in combination with pituitary adenomas (81%), in the first place prolactinomas, somatotropinomas, and pancreatic tumours (45%).
Problems of Endocrinology. 2012;58(5):16-20
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Estimation of the efficacy of the measurement of plasma renin activity and direct renin in diagnostics of primary aldosteronism
Goncharov N.P., Kolesnikova G.S., Katsiia G.V., Rogal' E.I.
Abstract
The objective of the present study was to estimate the informative value of the measurements of aldosterone level, direct renin, and plasma renin activity as well as the relationships between these characteristics for differential diagnostics of various forms of hypertension and, first and foremost, of primary aldosteronism. We have examined a total of 162 patients. The results of differential tests were used to allocate them to a few groups including 41 patients presenting with primary aldosteronism, 52 ones with incidentalomas, 26 with essential hypertension, and 43 with various endocrine diseases and normal arterial pressure (control groups). The aldosterone levels, direct renin, and plasma renin activity were measured in blood samples taken in morning hours from the patients in the supine position. The aldosterone to plasma renin activity (A/PRA) and aldosterone to direct renin (A/DR) ratios were calculated. The elevated blood aldosterone level is currently believed to be the principal criterion for primary aldosteronism in the patients suffering arterial hypertension. The RIA technology is the method of choice for the measurement of aldosterone levels. The determination of the A/PR ratio significantly improves the detectability of the disease. The use of direct renin level instead of kinetic renin ensures the high efficacy of screening for primary aldosteronism and its early diagnostics. The cut-off point for the calculation of the A/PRA ratio to differentiate between primary aldosteronism and incidentalomas is 2160 pmol/mcg/hr (sensitivity 100%, specificity 97.8%) in comparison with the analogous cut-off point for the discrimination between primary aldosteronism and endocrine pathology without hypertension is 49 pmol/mU (sensitivity 100%, specificity 95%). The cut-off point for the calculation of the A/PR ratio to differentiate between primary aldosteronism and incidentalomas is 2160 pmol/mcg/hr (sensitivity 89.5%, specificity 99%) in comparison with the analogous cut-off point for the discrimination between primary aldosteronism and endocrine pathology without hypertension is 1432 pmol/mcg/hr (sensitivity 89.5%, specificity 100%). It is concluded that the results of determination of direct renin level in the blood plasma are independent of the endogenous angiotensinogen level, less variable and more reproducible than than the results of the measurement of plasma renin activity. The aldosterone to direct renin ratio may be used for the screening of primary aldosteronism.
Problems of Endocrinology. 2012;58(5):21-27
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The results of DINASTIYA study - Diabeton MB: the observational program among the patients with type 2 diabetes mellitus under conditions of routine clinical practice
Shestakova M.V., Vikulova O.K., Avaliani D.A., Avdeeva S.N., Aĭdinian G.P., Akishina L.P., Aleĭnikova N.V., Aleksandrova E.G., Aleksandrova O.V.
Abstract
The aim of the DINASTIYA study (the name of this study is the acronym composed of the selected letters from the Russian title: "DIabeton MB - Nablyudatel'naya programma sredi patsientov c Sakharnym diabeTom 2 tipa v uslovIYAkh rutinnoy praktiki") was to estimate the possibility of achieving the targeted parameters of glycemic control by means of the step by step increase of diabeton MB dose and to evaluate the safety of this therapy under conditions of routine clinical practice. Materials and methods: The program involved 2213 patients with poorly controlled type 2 diabetes mellitus who had been treated with diabeton MB during the preceding period (30-90 mg/day in the form of monotherapy or in combination with the maximum tolerated dose of metformin). The dose of diabeton MB was titrated under control of glycemia during 3 months. The combined treatment including metformin was given to 70% of the patients. The average daily dose of diabeton MB by the end of the study was 90.9 mg. As many as 70% of the petients received diabeton MB at a daily dose of 90-120 mg. Results: The statistically significant reduction of the fasting blood glucose (FG) level from 8.3±1.6 mmol/l to 6.2±0.9 mmol/l and postprandial glycemia (PPG) from 10.5±2.1 mmol/l to 7.6±1.0 mmol/l was documented within 3 month after the onset of therapy. The targeted FG and PPG levels (<6.5 mmol/l and <8.0 mmol/l) were achieved in 68.9% and 71.5% of the patients respectively. Simultaneously, the body weight decreased (by 1 kg on the average) and arterial pressure fell down (SAP - 8.4 and DAP - 3.9 mm HG respectively). Conclusion: The strategy of management of type 2 diabetes mellitus based on the step by step increase of the dose of diabeton MB allows the targeted parameters of glycemic control to be achieved in combination with the good tolerability of the treatment and the low risk of development of hypoglycemia.
Problems of Endocrinology. 2012;58(5):28-36
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The pathogenetic substantiation of the use of angiotensin-converting enzyme for the treatment of diabetic retinopathy
Riabina M.V., Chesnokova N.B., Okhotsimskaia T.D., Kuznetsova T.P.
Abstract
The objective of the present work was to study visual functions, as well as changes in the systemic and local renin-angiotensin system before and after intake of the ACE inhibitor perindopril in 65 patients (130 eyes) presenting with diabetic retinopathy. The treatment caused the most pronounced changes in the patients with preproliferative diabetic retinopathy including the two-fold (p<0.05) decrease of ACE activity in the blood and its 7.5-fold (p<0.05) increase in the tears. These effects appear to be attributable to the action of perindopril on the levels of the proangiogenic factors known to be elevated in the patients with severe retinal ischemia. The treatment of patients with diabetic macular oedema with perindopril resulted in the decrease of the retinal thickness from 392.5±46.7 to 347.2±39.6 mcm in the absence of significant improvement in the acuteness of vision. All the patients experienced a significant reduction in the level of glycosylated hemoglobin.
Problems of Endocrinology. 2012;58(5):37-40
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Carbohydrate metabolism in the patients presenting with polycystic ovary syndrome
Soboleva E.L.
Abstract
This study with the participation of 117 patients was designed to characterize the clinical picture of polycystic ovary syndrome (POS), the state of carbohydrate metabolism, blood androgen and insulin levels. Impaired glucose tolerance was documented in 42 (36%) of the patients. Type 2 diabetes mellitus was diagnosed in one of them (0.9%). The occurrence of the normal and excessive body weight was unrelated to normal and impaired glucose tolerance. The same is true of the frequency of hyperinsulinemia even though abnormal insulin resistance indices and marked hyperinsulinemia were most frequently recorded in the patients having body mass index (BMI) in excess of 25. BMI was shown to directly correlate with the blood androgen level and the severity of manifestations of hirsutism. The study has demonstrated the necessity of estimating the state of carbohydrate metabolism in all the patients presenting with polycystic ovary syndrome for the timely prescription of pathogenetic therapy.
Problems of Endocrinology. 2012;58(5):41-45
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Minirin for the sublingual application to manage diabetes insipidus in the patients treated for brain tumours
Mazerkina N.A.
Abstract
The objective of the present study was to compare the effectiveness of desmopressin (standard oral and sublingual minirin tablets) and patient compliance with these two therapeutic modalities. The study included 51 patients at the age from 1 to 23 years presenting with diabetes insipidus (DI) at least 6 months in duration who had undergone the surgical treatment of craniopharyngioma (n=25), germinoma (n=21, glioma (n=3), and pituitary adenoma (n=2). The patients were transferred from the oral minirin formulation to the sublingual one (the dose of 100 mcg of oral minirin is equivalent to a 60 mcg sublingual tablet). The patients were interviewed to estimate their preference as regards either therapeutic modality within one week after the onset of the treatment. It turned out after the completion of the study that 30 of the 51 patients (59%) adhered to the new sublingual formulation of minirin. Their preferences were unrelated to the age of the patients, diagnosis, and duration of the disease but significantly correlated with a single dose of the preparation. Specifically, the single dose was lower than 1 tablet in 71% of the patients who chose to use oral minirin. No adverse reactions in response to the treatment with sublingual minirin were documented.
Problems of Endocrinology. 2012;58(5):46-49
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Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia)
Orlova E.M., Kareva M.A., Zakharova E.I., Poliakova G.A., Poddubnyĭ I.V., Tolstov K.N., Shiriaeva L.I., Melikian M.A., Kalinchenko N.I., Udalova N.V., Peterkova V.A.
Abstract
Carney complex is a rare autosomal dominant condition that manifests itself as a combination of lentiginosis, heart and skin myxomas, primary pigmented micronodular adrenocortical hyperplasia with ACTH-independent hypercorticism, calcifying Sertoli cell testicular tumours, schwannomas, thyroid and breast tumours, and other neoplasms. A total of 400 patients presenting with this pathology has thus far been described worldwide. 75% of the patients with Carney complex were found to have mutations in the gene encoding for the regulatory alpha-subunit of proteinkinase A (PRKARIA). The present paper presents three cases of Carney syndrome diagnosed in adolescents. Two new mutations in the PRKARIA gene were identified (c.1111_1112insC (pp.Q370fsX11) and c.1016T>A (p.339V>D)). One of the patients had adrenal adenoma. To the best of our knowledge, it is the first case of benign adrenal tumour greater than 2 cm in size in the patient with Carney complex.
Problems of Endocrinology. 2012;58(5):50-56
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Stress of endoplasmic reticulum: the cytological "scenario" of pathogenesis of human diseases
Dedov I.I., Smirnova O.M., Gorelyshev A.S.
Abstract
The phenomenon of stress of endoplasmic reticulum (ER) attracts an increasingly higher attention of the researchers. The available data suggest that ER dysfunction is a common component of many human pathologies including oncological diseases and neurodegenerative viral diseases. Stress of ER is of special significance in the cell populations actively secreting proteins because protein folding disturbances play an important role in its development. This fact opens up prospects for the better understanding of pathogenesis of diabetes mellitus and some other diseases. The present work summarizes the current concepts of biochemical mechanisms underlying stress of endoplasmic reticulum and elucidates the key signal pathways for its compensation and proapoptosis.
Problems of Endocrinology. 2012;58(5):57-65
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The role of modern technologies in the management of azoospermia using microdissection TESE in the framework of the ECF-ICSI program. A literature review. Part I.
Vitiazeva I.I., Bogoliubov S.V., Dedov I.I.
Abstract
The present review is focused on the modern methods for the treatment of male infertility related to obstructive and unobstructive azoospermia. The criteria and prognostic factors for obtaining spermatozoa by means of invasive manipulations on the testicles are considered. Special attention is given to the results of investigations into the state of the AZF-region of Y-chromosome and of the studies of patients presenting with Klinefelter's syndrome. The modern classification of testicular biopsies is presented that allows to discriminate between different forms of compromised spermatogenesis.
Problems of Endocrinology. 2012;58(5):66-74
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The experience with the use of the GLP-1 analog liraglutide (Victoza) for the optimization of metabolic control and correction of the body mass in the patients with type 2 diabetes mellitus
Saprina T.V., Gudkova T.K., Stoliarova V.A., Martynova S.I., Dudar'kova N.G., Iaroshevskaia T.G., Latypova V.N.
Abstract
The optimal control of diabetes mellitus (DM) should ensure not only the achievement and maintenance of the targeted blood glucose level but also the reduction of other cardiovascular risks. Obesity is a key risk factor of the development of type 2 diabetes mellitus (DM2) and an independent risk factor of cardiovascular complications. The agonists of glucagon-like peptide-1 (GLP-1) are currently considered to be the sole hypoglycemic agents that not only effectively correct hyperglycemia but also reduce the excessive body weight. Liraglutide (Victoza, Novo Nordisk) is the first long-acting analog of human GLP-1 approved for the application in the treatment of DM2 at the early stages of the disease in the form of both mono- and combined therapy. We present the literature review of the results of randomized clinical studies and our own experience with the use of Victoza for glycemic control and correction of the body weight in the patients presenting with type 2 diabetes mellitus.
Problems of Endocrinology. 2012;58(5):75-79
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