Genetic aspects of adrenal incidentalomas
G. Alimoukhamedova*a (Dr), Z. Khalimovaa (Prof)
a Academician Yo. Kh. Turakulov Center for the Scientific and Clinical Study of Endocrinology, Tashkent, UZBEKISTAN
Introduction. Adrenal neoplasms have both clinical and morphological peculiarities related to complex histogenesis, and structure of the gland. Defects in zone-specific expression of steriodogenic enzymes can cause clinical disorders in steroidogenesis.
There is no doubt that contribution of CYP11B2 gene to the development of arterial hypertension, as well as frequently diagnosed concomitant adrenal incidentalomas, is of great interest, as there are almost no researches of aldosterone synthetase gene polymorphism in patients with adrenal incidentalomas both in Uzbek population and the whole world.
The objective. The objective of the given research was to study distribution of С-344Т polymorph marker of CYP11B2 gene and possible relation of that polymorphism to hormonal, biochemical, and multifunctional parameters of testing in patients with adrenal incidentalomas.
Materials and methods. We have checked 80 Uzbek patients with adrenal incidentalomas, who received out and in-patients therapy and were followed at the clinic of Turakulov RSSPMC of endocrinology. Verification of the diagnosis of adrenal incidentaloma was based on clinical biochemical, hormonal, and visual imaging tests. Eighty samples of whole blood were genotyped for С-344Т polymorphism of CYP11B2 gene.
Results and discussion. Analysis of the obtained results showed dominance of СТ-heterozygotes on С-344Т polymorph marker of CYP11B2 gene in Uzbek people suffering adrenal incidentaloma. Analysis of the associations of CYP11B2 gene polymorph markers carriage with parameters of hormonal status, electrolyte balance, and blood lipid spectrum revealed several peculiarities. Carriage of СТ- and ТТ-genotypes of CYP11B2 gene С-344Т polymorph marker is associated with higher levels of aldosterone in blood serum of the patients with adrenal incidentalomas, whilst ТТ-homozygotes had reliably lower values of potassium and high level of sodium in blood serum; carriage of СТ-genotype of CYP11B2 gene is associated with the risk of GTI in patients with adrenal incidentalomas. Analysis of correlations between AP parameters and hormonal status showed low-renin character of arterial hypertension associated with CYP11B2 gene С-344Т polymorph marker T-allele carriage.
The author has declared no conflict of interest.