Endocrine Abstracts

Background: Osteoprotegerin (OPG), a component of the RANKL/RANK/OPG pathway, can inhibit bone resorption by affecting osteoclastogenesis. Estrogens deficiency is associated with decreased expression of OPG and increased osteoclast activity, and thus can lead to disorders of bone remodeling.Objective: To analyze relationship between serum OPG and bone mineral density (BMD) in patients with Turner syndrome (TS) subjected to estroprogestagen (EP) treatment...

Introduction: CHEK2 mutations are associated with increased risk of having neoplasms of various organs, including thyroid, breast, colon, renal and ovarian cancers. Coexistence of thyroid and breast cancers was observed in female carriers of CHEK2 gene mutations. In polish population the most common mutations are those truncating CHEK2 protein (1100delC, IVS2+1G>A, del5395) and a missense I157T CHEK2 mutation. Carrying missense I157T mutation is connected with having twice...

Introduction: CHEK2 gene is one of the genes in the DNA repair complex. Dysfunction of genes in this complex leads to genomic instability and is regarded as a cause of tumorigenesis. CHEK2 mutations spectrum was assessed in many populations, including polish one. The most common are mutations truncating CHEK2 protein (1100delC, IVS2+1G>A, del5395) and a missense I157T CHEK2 mutation. Literature data indicate that mutations truncating CHEK2 protein lead to a five-fold incre...