Endocrine Abstracts

Objective: There are many suggestions of predispositions to goiter in women with benign and malignant masthopaty, we looked for BRCA1 mutations in women wit and without goiter

Methods: One hundred and fifty two women-96 with and 56 without nontoxic goiter were examined in 2014. In US examination we calculated the volume of the thyroid gland and volume of nodules. Blood samples for BRCA1 were taken, ex05 - p.Cys61Gly; ex 11 polymorphisms K1183R, mutations: c.3819del5, c.3875del4, c.3986delT, c.4154delA; ex20 mutations: 5382insC, 5370C>T

Results: Ninety-six women with goiter size from 5.67 to 68.85 ml– mean 19.7 ml, median 15.6 ml, the total nodules volume varied from 0.1 to 39 ml mean 4.59 ml, median 0.94 ml and the control group of 50 women with thyroid volume in normal range from 5.1 to 19.9 mean 11.2, median 11.2 ml. The 25(OH)total levels varied in control group from 5.3 to 31.8 ng/ml, mean – 14.4, median 12.95, and in goiter group from 4.7 to 39.8 ng/ml, mean 15.00, median 13.3 ng/ml. Only 14% in control and 22% in goiter group had vitamin level over 20 ng/ml. We found no one pathogenic mutation in any group, and polymophisms on ex 11 were represented in similar number in goiter and non goiter group.

Discussion: Goiter is very common condition in polish female population over 40, rare BRCA1 mutation were not found in the research group and common polymorphisms do nod differ groups with and without goiter.

Conclusion: We need probably bigger group do make final conclusion, but on the basis if our research there is no increased incidence of BRCA1 mutations and polymorphism in goiter women.