Endocrine Abstracts

Introduction: Osteoporosis is a systemic skeletal disease with a strong genetic component. The androgen receptor (AR) is encoded by the AR gene and mediates the action of androgens, which play an important role in bone metabolism. Polymorphisms in the AR gene may be implicated in the pathogenesis of osteoporosis.Objectives: The present study aimed to explore the influence of the (CAG)n repeat polymorphism of AR</em...

Introduction: The cytokine tumor necrosis factor alpha (TNFα) is encoded by the TNFα gene and stimulates bone resorption. TNFα is involved in the pathogenesis of bone loss associated with estrogen deficiency. Polymorphisms in the TNFα gene have been associated with bone mineral density (BMD) in different populations.Objectives: The present study aimed to explore the influence of the single-nucleotide polymorphism <em...

Introduction: The aim of this study was to examine whether the distribution of SHBG (TAAAA)n repeat variants contributes to the exposure of the female fetus to androgen excess, by influencing the, in utero, androgen availability.Methods: The study population consisted of 100 pregnant women that carried female fetuses and underwent the procedure of amniocentesis due to age (older than 35). Blood samples and amniotic fluid samples were dr...

Introduction: Aromatase is encoded by the CYP19 gene and catalyzes the conversion of androgens to estrogens, which in turn regulate skeletal homeostasis. Polymorphisms in the CYP19 gene have been studied for their association with bone mineral density (BMD) in the general population with mixed results.Objectives: To explore the influence of the CYP19 (TTTA)n repeat polymorphism on BMD and serum levels of osteoprotegerin (OPG), receptor activator...

Background of study: Experimental research supports the hypothesis that fetal exposure to androgen excess may programme in utero the development of PCOS in adult life. Potential mechanisms for prenatal androgenization could be a reduced binding capacity of androgens by SHBG or reduced aromatization of androgens by aromatase. The aim of this study was to examine whether the SHBG(TAAAA)n polymorphism, known to be associated with SHBG levels and the CYP19(TTTA)n<...

Introduction: The vascular protective effects of estrogens are known to be mediated by their binding to specific estrogen receptors (ER). However, the significance of genetic variations of the ER in vascular diseases has not been reported. We have examined the association between stroke and PvuII and XbaI polymorphisms of the estrogen receptor-alpha gene in patients with metabolic syndrome.Methods and subjects: The study population consisted by 84 male a...

Objective: Androgen may be detrimental in the development of cardiovascular disease in women. We investigated possible associations between the (TAAAA)n polymorphism of sex hormone binding globulin (SHBG) gene promoter, which influences transcriptional efficiency of the SHBG gene and thus the tissue androgen availability and early markers of atherosclerosis in apparently healthy women.Design and methods: In this prospective clinical study, 153 con...