Hypothyroidism and hyperthyroidism are well known to be the main clinical features of thyroid pathology. Although a lot of mechanisms of these disorders exist, thyroid resection, radioiodine or drug (antithyroid or hormone replacement) therapy are still common treatment methods. However, in the coming century of gene therapy the comprehension of genetic pathways of the diseases may also be very important. In this article authors represent the defects of hormonogenesis in the systems which provide iodine transport and its intrathyrocytes reactions. TSHR, NIS, TPO, THOX, TG are detailed characterized, some mutations of these genes and corresponding clinical syndromes are described. It’s interesting that in some cases the identical mutation (for example T354P NIS) may have marked heterogenity in clinical pictures: from euthyroid goiter to congenital hypothyroidism. Some patients show cretinism and some remain euthyroid without mental or developmental disorders. Gene-gene interaction, inheritance type and environment factors are likely responsible for such clinical polymorphism. The aim of this article was to catch attention of thyroidologist to very important aspect of thyroid pathogenesis which is not connected with iodine deficient or autoimmune diseases. The competence in genetic research area might significant increase the educational level of practitioners. Key words: thyroid, inherited disorders, natrium-iodide simporter, TSH, hypothyroidism, goiter.

The undertaken study was to evaluate the severity of iodine deficiency and to establish the prevalence of goiter in the city of Nizhny Novgorod and in 35 districts of Nizhegorodsky region. 1868 children aged 8—11 years were examined. The median of urinary iodine concentration was measured, and the size of the thyroid was determined by palpation and by ultrasound study. Among all the examinees, the detection rate of the goiter was 19.4% (as evidenced by palpation) and the median of urinary iodine concentration was 45.05 μg/l. The findings indicate natural iodine deficiency on the whole territory studied with severity variations from mild to moderate, and the disparity in goiter rate and iodine excretion level in some districts of Nizhegorodsky region. Cluster analysis and automatic classification of the districts based on goiter prevalence and urinary iodine parameters may be useful for a comprehensive assessment of iodine status in the whole region. Analyzing the pattern of the spread of goiter has demonstrated the role of geochemical, social and medical factors existing in the region. Key words: iodine deficiency, goiter, population based stady, thyroid.

Objectives: the aim of the study was to investigate clinical features of thyroid function in pregnant woman in the region of natural iodine deficiency. Methods: serum thyroid stimulating hormone (TSH), free thyroxin (fT4) concentrations, urine excretion of iodine were measured. The structure and volume of thyroid gland were defined by palpation and ultrasonography. The 150 pregnant women (50 in every trimester) were included in study. Results: median of urine iodine excretion was 72.5 mkg/l, that confirm mild iodine deficiency in the region. During pregnancy median of urine excretion of iodine is significantly lower in third trimester (51.0 mkg/l), than in first (93.0 mkg/l) and in second (86.1 mkg/l). The goiter was registered more often in third trimester of pregnancy. The level of fT4 was decreased in third trimester of pregnancy. Key words: iodine deficiency, goiter, hypothyroidism pregnancy.

Objectives: Studying epidemiological criteria deficiency of iron and iodine at the population of Tyumen, on a background of iodine preventive maintenance. Methods: Because iron deficiency may impair the efficacy of iodine supplementation, the aim of this study was to determine the relation between serum ferritin and goiter, urinary iodine following iodized salt supplementation. Schoolboys are included in conformity to recommendations the WHO (1997) in 9—12 years old children (n = 435.). Results: On a background of preventive actions at the Tyumen schoolboys sufficient iodine maintenance (frequency of a craw is determined according to ultrasonic — 1.9%, a median urinary iodine — 113 mkg/l). The average level serum iron has made 13 ± 6.2 mg/dl, serum ferritin — 38.6 ± 30.9 mg/dl. At 30 % of schoolboys deficiency of iron is determined. Conclusion: In conditions compensated endemic goiter authentic correlation between criteria of an exchange of iron and parameters of iodine maintenance it is not established. Key words: iodine deficience, thyroid, goiter, iron, anemia.

Objective. To document the course of Graves’ ophthalmopathy (GO), following immunosuppressive therapy and the spontaneous course of the disease in patients with Graves’ disease (GD). Design. Randomized study with three-year follow-up. Patients. 150 euthyroid patients with moderately severe GO. Intervention. In group 1 (n = 52) patients received glucocorticoids (GC) alone (prednisolone per os for 5 months, starting dose, 50—80 mg/d; or intravenous, 500—1000 mg/d, given during 3 days weekly; 5—6 cycles in all). Group 2 (n = 51) treated by GC in combination with orbital radiotherapy (16—20 Gy). None of 47 patients of group 3 treated with immunosuppressive therapy either due to contraindications to corticosteroids, or refusal of patients (spontaneous course of GO). Measurements: The activity of GO was scored by the method of Mourits et al., 1997, (Clinical Activity Score, CAS) and confirmed by the assessment of serum sICAM-1 (soluble form of intercellular adhesion molecule-1) and uGAGs (the urinary excretion of glycosaminoglycans). Results. Group 2 was characterized with the earliest establishment of the inactive GO (CAS J 2) (in 2.7 ± 1.4 months after beginning of the treatment) (p < 0.05), and the lowest frequency of deteriorations (p < 0,05). In the end of observation the “burnt out” stage of GO (fibrosis) was revealed in 98% of patients of group 2, that statistically differs from two other groups (p < 0.001). Group 3, in this respect, statistically did not differ from group 1 (45% vs 38%, P = 0.39), detected by comparison of CAS values, uGAGs, sICAM-1, obtained in inactive GO. Conclusions. 1) the absence of statistical verified differences of parameters, obtained in the inactive GO in groups 3 and 1 allow to use active observation at the planning of GO treatment; 2) the most effective strategy of treatment of moderately severe GO should be considered combined immunosuppressive therapy. Key words: graves’disease, ophthalmopathy, hyperthyroidism.

Objectives of this retrospective study were to evaluate the natural course of subclinical hypothyroidism (SH) and to estimate possible predictable factors of overt hypothyroidism. Population of the study was selected from the patients with spontaneously elevated thyrotropin (TSH) and normal free thyroxin (fT4) levels. Overall 87 patients (12 male, 75 female) with SH without any therapy with thyroid hormones or iodide drugs or without previous thyroid surgery, thyrostatic therapy, or radioactive iodine therapy were included in the analysis. Results: the main risk factors of overt hypothyroidism in this population were positive thyroid antibodies (odds ratio = 3.99) and high initial level of TSH (>8 mU/l) (odds ratio = 4.77). Patient’s age, gender or duration of SH did not affect significantly the risk of overt hypothyroidism. Conclusions: rational substitutive therapy with thyroid hormones was not discussed in this study, however the data suggest that positive thyroid antibodies and relatively high TSH level may be useful to decide upon such therapy in individuals with SH. Key words: hypothyroidism, Hashimotos, thyroiditis, thyrotropin.