TY - JOUR AB - Congenital hypopituitarism (CH) is a relatively rare disease that is characterized by the deficiency of one or more hormones secreted by the pituitary gland, which leads to metabolic disorders, amenorrhea and infertility. However, the underlying molecular mechanisms of CH have not yet been fully elucidated. The present study evaluated the genome‑wide methylation level of whole blood DNA in 12 patients with CH and 12 age‑matched controls using Illumina Human Methylation 450 array, in order to determine the roles of epigenetic regulation in the pathogenesis of CH. The results demonstrated that the methylation levels of 51 CpG sites were significantly different between the patients with CH and the controls. Functional enrichment analysis identified that the aberrant methylated genes were enriched in gene sets associated with metabolic or cellular process, immune system process and reproduction. In addition, two CpG sites on genes LIM domain kinase 2 (LIMK2) and piwi‑like RNA‑mediated gene silencing 2 (PIWIL2), which are involved in spermatogenesis and/or testicular development, were identified to be hypermethylated in male patients with CH. The hypermethylation of these sites was further validated in another 40 patients with CH and 40 matched controls with a quantitative bisulfite pyrosequencing method, and the methylation levels of these two loci demonstrated promising diagnostic capacities for CH. The present results suggested that aberrant methylation of genes may be involved in the pathogenesis of CH, and hypermethylation of LIMK2 and PIWIL2 may contribute to the infertility of male patients with CH. Further studies are required to elucidate the underlying mechanisms of the epigenetic regulation of these genes. AD - Department of Pathology, Ruijin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 201821, P.R. China Department of Clinical Medicine, Ruijin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 201821, P.R. China Clinical Research Center, Ruijin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 201821, P.R. China School of Public Health, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, P.R. China AU - Fang,Xuqian AU - Chen,Changqiang AU - Cai,Jialin AU - Xiang,Enfei AU - Li,Jingquan AU - Chen,Peizhan DA - 2019/01/01 DO - 10.3892/ijmm.2018.3945 EP - 166 IS - 1 JO - Int J Mol Med KW - CH DNA methylation epigenetics spermatogenesis PY - 2019 SN - 1107-3756 1791-244X SP - 155 ST - Genome-wide methylation study of whole blood cells DNA in men with congenital hypopituitarism disease T2 - International Journal of Molecular Medicine TI - Genome-wide methylation study of whole blood cells DNA in men with congenital hypopituitarism disease UR - https://doi.org/10.3892/ijmm.2018.3945 VL - 43 ER -