Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcemia (FHH) causes lifelong hypercalcemia, which, in general, is not associated with significant morbidity. FHH1, the most common type of the disease, is inherited in an autosomal dominant pattern and caused by inactivating mutations in the Calcium Sensing Receptor (CaSR) gene, located in chromosome 3. Inactivation of CaSR in parathyroid cells results in a shift of calcium set point to higher values with consequent...

Hepatocyte nuclear factor 1B (HNF1B) defects (mutations or deletion) are associated with amultisystem disorder, including urinary tract abnormalities and diabetes (MODY 5, maturity-onset diabetes of the young type 5). We present the case of a patient with congenital anomalies of the kidney and urinary tract in the context of 17q12 deletion syndrome who several years later, presented with MODY 5. A 20-year-old male presented at the outpatient Endocrine Clinic with new-...

Introduction: Klotho has an important role in insulin signaling and the development of ageing-like phenotypes in mice. Recently, the G-395A polymorphism in the promoter region of the human klotho gene has been reported to affect promoter function. It has been also shown to be an independent genetic risk factor for atherosclerotic cardiovascular disease. The aim of this study was to examine the possible role of this polymorphism in the metabolic syndrome....

Introduction: Sex hormone binding globulin (SHBG) levels have been associated with the development of the metabolic syndrome. In particular, low SHBG levels have been proposed as an indicator of increased risk for metabolic syndrome in men. The (TAAAA)n repeat polymorphism SHBG gene is believed to affect SHBG levels. In vitro experiments have shown that the allele with 6 TAAAA repeats is associated with decreased transcriptional activity of SHBG gene. The aim of this study was...

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or Crohn’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...

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: Transcription factor 7 like-2 (TCF7L2) gene variants (rs12255372 and rs7903146) have been consistently shown to raise genetic risk for type 2 diabetes (T2D). The aim of this study was to investigate the possible role of these variants in the development of dysglycemia (T2D or impaired fasting glucose (IFG)) in patients with metabolic syndrome (MS).Patients and methods: The study population consisted of 228 patients with MS who were...

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...