Vol 61, No 5 (2015)

Clinical endocrinology
Analysis of the association of polymorphisms CASR and VDR with the development of nephrolithiasis in patients with primary hyperparathyroidism
Peretokina E.V., Pigarova E.A., Mokrysheva N.G., Rozhinskaya L.Y., Baydakova G.V., Zakharova E.Y.

Pathogenesis of nephrolithiasis (NL) at PHPT is not fully understood. Meanwhile, the detection of NL patients with PHPT is an absolute indication for parathyroidectomy. Conducted various studies aimed at finding a predictor of NL patients with PHPT. Actively study the role of genetic markers, particularly genes that regulate calcium-phosphorus metabolism.

Objective — to assess the relationship of polymorphisms CASR and VDR with the development of the NL at PHPТ.

Material and methods. A study to include 203 patients with confirmed PHPT, out of which 114 patients had the NL and 87 patients without NL. All patients were studied indicators calcium-phosphorus metabolism, the study of the level of PTH, vitamin D, the filtration function of the kidneys. All patients were studied indicators calcium-phosphorus metabolism, the level of PTH, vitamin D, the filtration function of the kidneys. The study of gene polymorphisms VDR (FokI, TaqI, BsmI, ApaI, Cdx2) was performed in 169 patients (113 with NL, 56 without NL) by polymerase chain reaction followed by restriction analysis; Study 3 polymorphisms CASR (A986S, R990G, Q1011E) was performed in 187 patients (110 with NL, 77 without NL), by direct sequencing.

Results. No significant differences in the frequency of genotypes and alleles studied genes between the two groups has been received. According to logistic regression analysis, the only predictor of NL is the level of ionized calcium.

Conclusions. The studied genes can not be used as predictors of the NL. May need to investigate other genes.

Problems of Endocrinology. 2015;61(5):4-8
The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)
Orlova E.M., Sozaeva L.S., Karmanov M.E., Breivik L.E., Husebye E.S., Kareva M.A.
This study was designed to ascertain the role of anti-interferon (IFN) and 2 antibodies (AB) in diagnostics of type 1 autoimmune polyglandular syndrome (APS-1) and evaluate specificity and sensitivity of the HEK-Blue cells method used to detect these antibodies. The study included 34 patients presenting with APS-1 and 21 patients with focal alopecia. All 100% of the patients with APS-1 ehxhibited high titers of anti IFN-ωantibodies; 97% of them had anti IFN-a2 antibodies. These antibodies were not found in the patients with focal alopecia. It is concluded that the measurement of anti IFN-α and α2 antibodies with the use of HEK-Blue cells is a highly specific and sensitive method for diagnostics of APS-1.
Problems of Endocrinology. 2015;61(5):9-13
Molecular genetic and clinical variants MODY2 and MODY3 in children in Russia
Kuraeva T.L., Sechko E.A., Zilberman L.I., Ivanova O.N., Mayorov A.Y., Koksharova E.O., Peterkova V.A., Dedov I.I.

Aim — to research molecular genetic and clinical characteristics of diabetes mellitus MODY2 and MODY3 in children.

Material and methods. Genetic testing for GCK and HNF1α was performed in 169 patients with carbohydrate metabolism disorders, with age of diagnosis under 18. Carbohydrate metabolism disorders were interpreted as MODY. Analysis of clinical data at the presentation of carbohydrate metabolism disorder and cases follow-up was provided in 62 patients with genetic confirmed MODY2 and 18 patients with genetic confirmed MODY3.

Results. Ratio MODY2 and MODY3 was 3,4:1. Carbohydrate metabolism disorders were diagnosed earlier in MODY2 than in MODY3 — 7,8 years (4,0; 10,5) vs. 11,8 years (9,7; 13,5) (p<0,01). Degree of carbohydrate metabolism disorder was less in MODY2 — in 22,4% of patients all makers of carbohydrate metabolism disorder (HbA1c, fasting glycaemia, 120 min glycaemia) were less than diabetic range, in MODY3 all these makers were diabetics in 100% of cases. Patients with MODY2 significantly less frequently were treated with antihyperglycemic drugs. Carbohydrate metabolism disorders in one of the parents were diagnosed earlier in MODY3 — in 24 years (18,5; 35,3) vs. 32 years (27; 37) in MODY2 (p<0,05), parents were treated with antihyperglycemic drugs — in 94,4% vs. 22,2%  respectively (p<0,01).

Conclusion. This study is the largest in Russia and estimated that MODY2 is the most prevalence and has had milder presentation and less dysfunction of β-cells to compare to MODY-HNF1α.

Problems of Endocrinology. 2015;61(5):14-25
Polymorphisms Glu23Lys of KCNJ11 gene are associated with Type 2 diabetes in the Kyrgyz Population
Isakova J.T., Talaibekova E.T., Isabaeva D.I., Lunegova O.S., Kerimkulova A.S., Asambaeva D.A., Aldashev A.A.

Aim — in this study, we investigated whether polymorphisms Glu23Lys in KCNJ11 are associated with Type 2 diabetes mellitus (T2DM) in the Kyrgyz population.

Material and methods. We genotyped 287 Kyrgyz individuals. A case—control study was performed, including 178 patients with T2DM (female — 55, male — 123, average age 54±6,6) and 109 non-diabetes controls (female — 48, male — 61, average age 50±8,4). The genotypes of polymorphic position Glu23Lys of KCNJ11 were determined by PCR-RFLP assay.

Results. Genotypes Glu23Lys and Lys23Lys, containing the minor allele 23Lys, were more frequent in the group of type 2 diabetes (χ2=4,09; p=0,043). The allele 23Lys of KCNJ11 gene is associated with a high risk of developing type 2 diabetes in the Kyrgyz population [OR=1,46 (1,02—2,07); p=0,036]. Homozygous genotype Glu23Glu and allele Glu23 reduces the risk of developing type 2 diabetes [OR=0,61 (0,37—0,99); p=0,043 and OR=0,69 (0,48—0,98); p=0,037], respectively).

Conclusion. Polymorphisms Glu23Lys of KCNJ11 gene are associated with the risk of Type 2 diabetes mellitus in the Kyrgyz Population according to the dominant and additive models of inheritance of the trait. Our results indicate that the allele 23Lys of KCNJ11 gene confers an elevated risk for the development of Type 2 diabetes mellitus in the Kyrgyz population.

Problems of Endocrinology. 2015;61(5):26-29
The hereditary predisposition features of latent autoimmune diabetes of adults
Shtandel' S.A., Tikhonova T.M.

There are the results of complex study of features formation of hereditary predisposition to latent autoimmune diabetes of adults (LADA).

The aim of the study was the complex analysis of LADA hereditary predisposition with using of genealogical, genetic-demographic and molecular-genetic methods.

Material and methods. Genetic and genetic-demographic research is spent at 1155 diabetes mellitus (DM) patients, the analysis of distribution of polymorphism С1858Т of gene PTPN22 is executed at 599 DM patients and 253 healthy ones; 49A/G gene CTLA4 — at 300 DM patients and 44 control group persons; Е23К gene KCNJ11 — at 231 DM patients and 44 healthy ones. Testing of polygene and genetic heterogeneity inheritance models are held; the interrelation of crossbreeding degree sick and DM family accumulation is studied; definition of single nucleotide polymorphisms were carried out with the help of polymerase chain reaction and restrict analysis.

Results. It has been shown, that LADA is genetically independent DM form, is described by parameters of polygenic threshold model, in its inheritance the essential role belongs to hereditary factors (59,2%), are available nonlinear intraloci and interallelic (GD=1,2%) interactions and influence of some genes with the expressed effect in determination of this form of disease is possible. In LADA genetic control system has about identical quantity of the common genes with DM type 1 and 2 (65,3 and 66,1%, accordingly). Change of family accumulation type 1 and 2 DM among 1 and 2nd degree of relationship relatives at LADA patients with crossbreeding degree augmentation differs from that at patients both type 1, and 2 DM. It has been shown, that the Е23К of gene KCNJ1149A/G gene CTLA4 and С1858Т gene PTPN22 polymorphisms in the Kharkov population are associated with LADA, type 1 and 2 DM and raised the risk of their development. The homozygous carriage 23K/K gene KCNJ1149G/G gene and 1858T/T gene PTPN22 corresponds to the greatest risk of the LADA development.

Conclusions. The carried out complex research has taped the LADA genetic independence what can form the establishment for specification of classification of this DM form.

Problems of Endocrinology. 2015;61(5):30-42
New approaches to early diagnostic of microangiopathy in patients with type 1 diabetes mellitus
Krutikov E.S., Zhitova V.A.

Aim — the development of method for early diagnosis of microangiopathy in patients with type 1 diabetes mellitus (DM) by capillaroscopy with functional tests: the cuff occlusion of the upper extremity, tests with the cooling and heat exposures on the upper extremity.

Material and methods. We investigated 54 patients with DM type I (mean age 24,1±3.2 years), who were divided into 2 groups: I group — 28 (51.6%) patients with duration DM <5 years; group II — 26 (48.4%) with duration DM >7 years. All the patients were underwent complex laboratory and instrumental examinations and also capillaroscopy and functional tests. Control group was consisting of 26 healthy people.

Results. We revealed early stages of the diabetic microangiopathy even before the appearance of structural changes in patients with DM type at functional tests. We were identified the functional disorders: increasing recovery time of capillaroscopic parameters after carrying out functional tests to baseline versus control.

Conclusion. We were to diagnose structural changes of microcirculation in diabetic patients with disease duration more than 7 years by capillaroscopy. In the early stages of the disease we were observed functional disorders which appearance before the structural changes using functional tests. It was lengthened recovery time of capillaroscopic dates after carrying out functional tests to baseline values in comparison with the control group. Recovery time may be used as early diagnostic criteria of diabetic microangiopathy when carrying out functional tests in patients with DM.

Problems of Endocrinology. 2015;61(5):43-47
Influence of obesity on sperm DNA fragmentation index and outcomes of IVF programs
Vitiazeva I.I., Altashina M.V., Mun T.V., Troshina E.A.

The reduction of the birth rates in the developed countries and increase in the frequency of male infertility stimulate the extensive investigations for the factors that negatively affect the reproductive system of the men and causing their infertility. The excessive body weight and obesity in the men of the reproductive age can promote the development of infertility. One of the mechanisms by which excess fat tissue has a negative impact on male fertility is disturbance of spermatogenesis. The authors aggregate scientific publications concerning the macroscopic and ultrastructural disturbances of spermatogenesis in men with obesity. We present the results of the study conducted at the Department of ART Endocrinology Research Center, targeted at the revelation of the relationship of body mass index of men of reproductive age, semen parameters, sperm DNA fragmentation index, as well as the influence of body mass index on outcomes of in vitro fertilization programs.

Problems of Endocrinology. 2015;61(5):48-55
Possible benefits of early combination therapy of type 2 diabetes
Shestakova E.A.

Some current international and national guidelines for type 2 diabetes recommend intensive start of antidiabetic treatment if HbA1c is more than 7.5% at the moment of diagnosis of type 2 diabetes. The article speculates on the possible benefits of combination therapy at the very early stages of type 2 diabetes progression.

Problems of Endocrinology. 2015;61(5):56-59
Clinical guidelines
The recommendations on diagnostics and treatment of male hypogonadism (deficit of testosterone). The project
Dedov I.I., Mel'nichenko G.A., Rozhivanov R.V., Kurbatov D.G.

Male hypogonadism is a condition in which the body doesn’t produce enough testosterone which results in its low serum level in combination with characteristic clinical symptoms and/or signs (see the description below) that can be observed in the patients presenting with pathological changes in testicles and/or hypophysis, such as Kleinfelter’s syndrome, and in men with idiopathic metabolic or iatrogenic disorders leading to androgen deficiency.

The present recommendations does not cover the entire set of pathological conditions responsible for the development of hypogonadism (deficit of testosterone); rather, they are focused on its clinical variants that account for the majority of the cases of male hypogonadism.

Problems of Endocrinology. 2015;61(5):60-71

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