Sex hormone synthesis occurs in various organs and tissues besides the gonads, such as adrenal glands, brain, intestines, skin, fat, bone, and cells of the immune system. Regarding the latter, it is still not clear which pathways are active, and if they are modified in case of illness of the immune system. Our goal in this study was to determine mRNA expression of different steroidogenic enzymes in peripheral blood mononuclear cells (PBMCs) from healthy individuals of both sexes and of different ages, and then to compare their expression between healthy individuals and patients with Chronic Lymphocytic Leukemia (CLL). Furthermore, to elucidate possible mechanisms that regulate enzyme expression, we analyzed epigenetic events like promoter methylation. We determined that normal cells of the immune system, regardless of sex and age, expressed P450 side chain cleavage (P450scc), cytochrome P450 17α-hydroxylase/c17,20-lyase (P45017α), 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase (3β-HSD), steroid 5 α reductase (5α-R) types 1, 2 and 3, 3α-hydroxysteroid dehydrogenase (3α-HSD) type 3, and 17β-hydroxysteroid dehydrogenase (17β-HSD) types 1, 3 and 5. We also established that 5α-R 1, 5α-R 3, 3α-HSD 3, 17β-HSD 1 and 17β-HSD 5 expression was altered in CLL patients, and that promoter regions of 5α-R 1, 17β-HSD 1 and 17β-HSD 5 were deferentially methylated. These results suggest that steroidogenic pathways may be affected in CLL cells, and this could be related to disease pathogenesis.

性激素合成发生在性腺以外的各种器官和组织中，例如肾上腺，大脑，肠，皮肤，脂肪，骨骼和免疫系统的细胞。关于后者，尚不清楚哪些途径是活跃的，以及在免疫系统疾病的情况下是否对其进行了修饰。我们这项研究的目的是确定来自性别和年龄的健康个体外周血单个核细胞（PBMC）中不同类固醇生成酶的mRNA表达，然后比较健康个体与慢性淋巴细胞性白血病（CLL）患者之间的表达）。此外，为了阐明调节酶表达的可能机制，我们分析了表观遗传事件，如启动子甲基化。我们确定免疫系统的正常细胞，无论性别和年龄，表达的P450侧链裂解（P450scc），细胞色素P45017α-羟化酶/ c17,20-裂解酶（P45017α），3β-羟类固醇脱氢酶/Δ5-Δ4-异构酶（3β-HSD），类固醇5α还原酶（5α-R）类型1、2和3、3型3α-羟基类固醇脱氢酶（3α-HSD）和1、3和5型的17β-羟基类固醇脱氢酶（17β-HSD）我们还确定了5α-R1、5α-R 3、3α -CLD患者中-HSD 3、17β-HSD 1和17β-HSD5的表达发生了改变，并且5α-R1、17β-HSD 1和17β-HSD5的启动子区域被甲基化。这些结果表明类固醇生成途径可能在CLL细胞中受到影响，这可能与疾病的发病机理有关。3型3α-羟基类固醇脱氢酶（3α-HSD）和1、3和5型17β-羟基类固醇脱氢酶（17β-HSD）我们还确定5α-R1、5α-R 3、3α-HSD 3、17β-在CLL患者中，HSD 1和17β-HSD5的表达发生了改变，并且5α-R1、17β-HSD 1和17β-HSD5的启动子区域被甲基化。这些结果表明类固醇生成途径可能在CLL细胞中受到影响，这可能与疾病的发病机理有关。3型3α-羟基类固醇脱氢酶（3α-HSD）和1、3和5型17β-羟基类固醇脱氢酶（17β-HSD）我们还确定5α-R1、5α-R 3、3α-HSD 3、17β-在CLL患者中，HSD 1和17β-HSD5的表达发生了改变，并且5α-R1、17β-HSD 1和17β-HSD5的启动子区域被甲基化。这些结果表明类固醇生成途径可能在CLL细胞中受到影响，这可能与疾病的发病机理有关。