[Central hypothyroidism].

Central hypothyroidism is a rare cause of hypothyroidism, consequence of various disorders affecting pituitary (secondary) or hypothalamus (tertiary hypothyroidism). Difficulties in the diagnosis and management of patients are due to the nontypical clinical picture, frequent combination with impaired function of other pituitary hormones, difficulties in laboratory assessment in high TSH levels or low - normal T4 free levels. Diagnosis is based on a confirmed decrease in the level of free T4 with a low or normal level of TSH. The standard treatment for hypothyroidism of any etiology remains monotherapy with levothyroxine, which allows to restore the euthyroid state in most patients. The criterion for the effectiveness of therapy is to maintain the level of T4 free in the upper half of the reference norm interval. The article presents a modern understanding of epidemiology, pathogenesis and strategies for managing patients with central hypothyroidism.

[Molecular markers as risk factors for thyroid cancer].

Thyroid cancer is the most common malignant tumor of the endocrine system. An increase in the incidence of thyroid cancer has been noted over the past decade, mainly due to papillary cancer. The influence of environmental factors, increased availability of medical care, including sensitive diagnostic tests, such as ultrasound and fine - needle aspiration (FNA), can affect the fact of the growth of this incidence. Palpation of thyroid gland has very low diagnostic value for detecting thyroid cancer, while thyroid ultrasound and FNA can detect malignant tumors in 20% of cases. Today, the FNA is the fastest, most accurate, economically accessible, and quite safe method for cytological diagnosis of the thyroid nodules. And molecular genetic testing of FNA samples could serve as an additional reliable diagnostic tool in the case of atypia of undetermined significance.

Association between polymorphic markers in candidate genes and the risk of manifestationof endocrine ophthalmopathy in patients with Graves' disease.

AIM: To analyze the association between the polymorphic markers in CTLA4, TNF, IL10 and IL16 genes and the risk of manifestation of endocrine ophthalmopathy (EO) in patients with Graves' disease (GD). MATERIALS AND METHODS: Case-control study included 248 patients with GD. Using polymerase chain reaction we studied the distribution of alleles and genotypes of polymorphic markers such as A60G (rs3087243) in CTLA4 gene, G(-308)A (rs1800629) in TNF gene, G(-1082)A (rs1800896) in IL10 gene, T3249C (rs4778641) in IL16 gene among 141 patients with Graves' disease and EO and 107 patients with GD without EO. RESULTS: The frequencies of A alleles and the AA genotypes were significantly increased and the frequencies of G alleles and the GG genotype polymorphic markers rs3087243 of CTLA4 gene and rs1800896 of IL10 gene, as well as the GG genotype polymorphic marker rs1800629 of TNF gene were reduced in patients with GD and EO. The polymorphism in CTLA4 gene was also associated with the activity and the severity of EO. The comparative analysis of the allele and genotype frequency distribution of polymorphic markers of IL16 gene did not show the significant difference. CONCLUSION: The risk of manifestation and the development of EO in patients with Graves' disease can be caused by not only environmental, but also genetic risk factors.

[Association of CTLA4 and TNF gene polymorphisms with endocrine ophthalmopathy in ethnic Russian patients with Graves' disease]. / Assotsiatsiya polimorfnykh markerov genov CTLA4 i TNF s endokrinnoi oftal'mopatiei u patsientov russkogo proiskhozhdeniya s bolezn'yu Greivsa.

AIM: To analyze the associations of the rs3087243 CTLA4 polymorphism and the rs1800629 TNF polymorphism with endocrine ophthalmopathy (EOP) in ethnic Russian patients with Graves' disease (GD). MATERIAL AND METHODS: The case-control study enrolled 205 patients with GD. The distribution of alleles and genotypes of the rs3087243 CTLA4 and rs1800629 TNF polymorphisms was studied in 141 patients with GD and EOP (a GD+EOP group) and 64 patients with GD without EOP (a GD-EOP group). The polymorphic alleles were identified by polymerase chain reaction-restriction fragment length analysis. RESULTS: The patients with GD in their history and EOP had significantly higher frequencies of A allele and AA genotype and a lower proportion of G allele and GG genotype of the rs3087243 CTLA4 polymorphism. Comparative analysis revealed no significant differences in the frequency of the alleles and genotypes of the rs1800629 TNF polymorphism. CONCLUSION: The rs3087243 CTLA4 polymorphism is associated with the risk of EOP in ethnic Russian patients with GD.

[Indications for surgical treatment of diffuse toxic goiter]. / O pokazaniiakh k khirurgicheskomu lecheniiu diffuznogo toksicheskogo zoba.

The results of examination and treatment in 129 patients with toxic goiter (TG) were analyzed. Thyroid status, stable intrathyroid iodine content, thyroid-stimulating hormone (TSH) receptor antibody titer, the volume and echostructure of thyroid tissue were studied either during their first visit and during conservative treatment. The findings suggests that the relapse rate is higher with slow reduction in thyroxine levels and prolonged suppressed TSH during treatment, with higher TSH receptor antibody titer after treatment, with large thyroid volumes when TG manifests it self and in the absence of positive changes in the volume and echostructure of thyroid tissue during treatment, with lower intrathyroid iodine content and its greater reduction during treatment. Earlier surgical intervention should be recommended 2 patients having these risk factors (their combination, in particular).

Complex association analysis of graves disease using a set of polymorphic markers.

Graves disease is complex autoimmune thyrotoxicosis. A number of genes may contribute to the development of the disorder. Some of them may be genes that encode cytotoxic T-lymphocyte-associated serine esterase-4 (CTLA4), subunit 2 of large multifunctional protease (LMP2), thyroid-stimulating hormone receptor (TSHR), and interleukin 1 receptor antagonist (IL1RN). We studied polymorphism of Ala17Thr CTLA4, H60R LMP2, Pro52Thr TSHR, and IL1RN-VNTR in healthy controls (n = 93) and patients with Graves disease (n = 78) using PCR. To study CTLA4, H60R, and TSHR polymorphism, PCR products were digested with MboI, Hin6I and PsyI, respectively. Comparative analysis using chi(2) test showed significant differences in allele and genotype frequency of Ala17Thr polymorphic marker between the two groups studied. Thus, the CTLA4 gene may be involved in the pathogenesis of Graves disease in a Moscow population.