Vol 56, No 2 (2010)

Clinical and molecular genetic characteristic of 10 cases with congenital adrenal hypoplasia caused by DAX-1 gene defects
Tiul'pakov A.N., Kalinchenko N.I.
Abstract
X-linked congenital adrenal hypoplasia (CAH) is one of the most widespread forms of congenital hypocortisolism in boys. The disease is caused by defects in the NR0B1 gene that encodes for DAX1 protein. CAH manifests itself largely as adrenal insufficiency in young children and hypogonadotropic hypogonadism developing by the pubertal period. This paper describes 10 patients presenting with X-linked form of congenital adrenal hypoplasia. In six of them adrenal insufficiency was apparent during the first month of life and in the remaining four at a later time (up to the age of 13 years). Hypogonadism was diagnosed in all the patients (n=7) who reached the age of 15 by the moment of the last examination. Diagnosis of CAH was confirmed by molecular genetic analysis in all the ten cases. Nine different mutations in the NR0B1 gene were identified.
Problems of Endocrinology. 2010;56(2):3-9
views
Low-dose ACTH test for the diagnosis of non-classical form of congenital adrenocortical dysfunction
Chagaĭ N.B., Fadeev V.V., Bakulina E.G.
Abstract
The possibilities to diagnose the non-classical form of 21-hydroxylase deficiency using the low-dose (5 mcg) 1-24 ACTH stimulation test are considered.
Problems of Endocrinology. 2010;56(2):10-14
views
Metabolic and hemostatic characteristics of patients with type 2 diabetes mellitus differing in the severity of angiopathy
Petrik G.G., Pavlishchuk S.A.
Abstract
The objective of the present study was to identify risk factors of developing vascular disorders in patients at different stages of type 2 diabetes mellitus (DM2) by comprehensive analysis of metabolic parameters, hemograms, thrombocytic and plasma hemostasis. The study involved 75 patients (22 men and 53 women of mean age 57,3±9,7 years) having angiopathies of different severity. The data obtained confirmed the presence of risk factors of vascular pathology in different phases of DM2. All the examined patients including those without angiopathies in the early period of diabetes showed triglyceridemia, cholesterolemia, enhanced platelet aggregation activity, and shortened activated partial thromboplastin time. Patients with diabetic nephropathy at the stage of microalbuminuria and with non-proliferative retinopathy were distinct from the remaining ones in that they had significantly higher blood alpha-2 globulin and fibrinogen levels. Diabetic patients with micro- and macrovascular problems were characterized by marked dysproteinemia and abnormal platelet disaggregation.
Problems of Endocrinology. 2010;56(2):15-19
views
Lipid oxidation during physical exercises of different intensity in patients with abdominal obesity
Berezina A.V., Beliaeva O.D., Bazhenova E.A., Berkovich O.A., Baranova E.I., Grineva E.N.
Abstract
The objective of this work was to study the character of lipid oxidation during physical exercises of different intensity and identify factors influencing this process in patients with abdominal obesity. The study included 90 patients aged from 30 to 55 years with abdominal obesity (AO). Lipid oxidation (LO) during physical exercises (PE) was measured by the indirect colorimetric technique with the assessment of oxygen consumption (VO2peak), anaerobic threshold (AT), and respiratory coefficient (RQ). The level of physical activity (PA) and body composition were determined. Patients with abdominal obesity exhibited maximum lipid oxidation at low-intensity physical exercise; it decreased with increasing PE intensity. Lipid oxidation was related to AT (r=0,6; p=0,0001), heart rate at maximum PE (r=0,8; p<0,001), energy expenditure during physical exercices (r=0,98; p=0,016), total energy consumption for the maintenance of physical activity (r=0,3; p<0,035), lean body mass (r=0,3; p=0,04), and duration of obesity (r=0,6; p=0,04).
Problems of Endocrinology. 2010;56(2):20-26
views
Insulin-potentiating action of antioxidants in experimental diabetes mellitus
Volchegorskiĭ I.A., Rassokhina L.M., Miroshnichenko I.I.
Abstract
The objective of this work was to study effects of alpha-lipoic acid (α-LA), 3-oxypyridine and succinic acid derivatives (emo­xipine, reamberine, and mexidole) on the metabolic status, conditioned reflex learning, and motivated behaviour in rats with alloxan-induced diabetes receiving basal insulin therapy. The data obtained were compared with effects of the above antioxidants (AO) on insulin sensitivity and results of glucose tolerance test in intact animals. It was shown that administration of AO during two weeks corrected disturbances of carbohydrate and lipid metabolism, normalized the behaviour and learning in terms of the conditioned reflex in diabetic rats. These effects depended on the influence of antioxidative compounds on insulin sensitivity and tolerance of glucose loading. The best correction of diabetic manifestations was achieved using course doses of a-LA that maximally enhanced insulin sensitivity and of mexidole that markedly improved glucose tolerance. It is concluded that significant elevation of blood lipoperoxide levels in rats with alloxan-induced diabetes following administration of AO agents for 14 days gives no evidence of the direct relationship between their efficiency and antioxidative action.
Problems of Endocrinology. 2010;56(2):27-35
views
Multiple immunoregulatory disturbances in the progeny of rats with experimental gestational diabetes
Kolesnik I.M., Kamyshnyĭ A.M., Abramov A.V., Gancheva O.V., Liubomirskaia V.A.
Abstract
The objective of the present work was to study the morphofunctional state of insulin-expressing, antigen-presenting, Treg cells, epithelioreticulocytes, thymic cells expressing c-Fos and Bcl-2+ in the progeny of rats with experimental gestational diabetes (EGD). The methods employed included immunohistochemical staining with direct and indirect immunofluorescence using monoclonal antibodies against insulin, MHC-II antigen, CD25 antigen, cytokeratins, rat Bcl-2 and c-Fos proteins. The off-springs of rats with experimental gestational diabetes were shown to have multiple disturbances of immunoregulation in the thymus, such as abnormalities of Treg cell differentiation, impaired expression of early response proteins (c-Fos), reduced number of epithelioreticulocytes, antigen-presenting and insulin-immunopositive cells, hyperexpression of anti-apoptotic Bcl-2 protein. These changes interfere with the normal apoptotic process, selection of thymocytes, and development of central tolerance to pancreatic antigens.
Problems of Endocrinology. 2010;56(2):36-41
views
Ovotesticular disorder of sexual development due to gonosomal mosaicism
Raĭgorodskaia N.I., Morozov D.A., Chernykh V.B., Bolotova N.V., Zharkov D.A., Shilova N.V., Zolotukhina T.V., Tsmokaliuk E.N.
Abstract
This paper describes diagnosis and surgical treatment of a 3.5 year-old child who presented with abnormal sex differentiation resulting in the development of gonads into ovotestes. This disorder was provoked by a rare variant of mosaicism involving sex chromosome and characterized by the presence of an irregular marker chromosome. Additional genetic analysis allowed its origin to be determined: it was identified as Yp chromosome. Comprehensive examination yielded criteria for the choice of sexual identity and provided a basis for the surgical treatment in conformity with the gender being sought.
Problems of Endocrinology. 2010;56(2):42-46
views
Diagnosis of primary hyperaldosteronism
Rogal' E.I., Bel'tsevich D.G., Fadeev V.V., Molashenko N.V., Mel'nichenko G.A.
Abstract
The present review is concerned with the problem of diagnosis of primary hyperaldosteronism and differential diagnosis of various nosological forms of this disease. Individual diagnostic steps are described along with main functional (verification) tests and instrumental methods used in the studies of this pathology.
Problems of Endocrinology. 2010;56(2):47-52
views
Diagnosis, differential diagnosis, and treatment of endogenous hypercorticism
Troshina E.A., Bel'tsevich D.G., Molashenko N.V., Gazizova D.O.
Abstract
The present review deals with diagnosis, differential diagnosis, and treatment of endogenous hypercorticism. Key diagnostic steps are described along with main pharmacological tests, instrumental methods, treatment and follow-up strategies.
Problems of Endocrinology. 2010;56(2):53-63
views
views

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies