GENDER-SPECIFIC HORMONAL FEATURES ASSOCIATED WITH COL1A1 rs1800012 GENOTYPES IN PRIMARY EMPTY SELLA SYNDROME

Abstract

Primary empty sella syndrome (PESS) may be accompanied by variable endocrine disturbances resulting from anatomical and functional changes in the hypothalamic-pituitary system. The present study evaluated hormonal characteristics associated with different genotypes of the COL1A1 rs1800012 polymorphism in women and men with PESS. The analysis included 26 women and 10 men with available molecular-genetic and hormonal data. Among women, 13 had the G/G genotype, 9 the G/T genotype, and 4 the T/T genotype. The most pronounced genotype-related differences involved prolactin. Its concentration was 38.7±4.6 in G/G carriers, 20.9±4.6 in G/T carriers, and 46.0±7.5 in T/T carriers; significant differences were observed between G/T and G/G as well as between T/T and G/T groups (p<0.05). Among men, the T/T genotype was associated with a significantly lower FSH level compared with G/T carriers (2.07±0.10 vs 2.70±0.10; p<0.05), while LH and testosterone also tended to be lower. No consistent genotype-dependent differences were found for TSH or free T4. The results indicate that the association between COL1A1 rs1800012 and the hormonal phenotype of PESS may differ between sexes, involving prolactin predominantly in women and gonadotropic function in men.