Endocrine Abstracts

Introduction: Osteoporosis is a multifactorial disease characterized by reduced bone mass and increased risk of fragility fractures. Menopause predisposes women to osteoporosis due to declining estrogen levels. Iron is known to play a relevant role in the development of osteoporosis since iron suppresses osteoblast formation and may also stimulate osteoclast resorption of bone. Also, homocysteine is a known risk factor for osteoporotic fractures and is related to DNA methylati...

Objectives: To study the association of functional polymorphisms at DHFR, CBS and MTHFR genes with bone mineral density (BMD) and metabolic parameters of bone remodeling.Materials and methods: BMD (g/cm2) was measured by DEXA in 391 subjects: 174 with normal BMD (137F 37M; age=48.79±12.99 years; BMI=29.61±5.22 kg/m2), 62 with osteopenia (48F 14M; age=56.06±12.96 years; BMI=27.64±4.94 kg/m2) and 154 with osteoporosis (119F, 35M; age=64...

Introduction: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) represents <2% of all causes of Cushing’s Syndrome (CS). Clinical course is insidious, with adrenal bilateral macronodules and gradual cortisol excess, only rarely presenting with overt CS. The pathophysiology remains unclear in most cases; however, pathogenic variants in the onco-supressor ARMC5 gene are described in 25-50% of PBMAH and may confer a more severe clinical course. <p class="abs...

Introduction: POEMS syndrome is a rare multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma-proliferative disorder and skin changes. Different endocrinopathies are found in 58-80% of patients, however, its pathophysiology remains unknown. Hypogonadism (primary and secondary) is the most common endocrinopathy (79% of patients), with other abnormalities including hyperprolactinemia (56%), primary hypothyroidism (54%), abnormal glu...

Background and objectivesTAS2R38 is a bitter taste gene that can influence food consumption depending on its single nucleotide polymorphisms (SNPs) leading to aminoacid substitutions in the receptor protein P49A (proline/alanine), A262V (alanine/valine) e V296I (valine/isoleucine). Subjects with at least one PAV (proline-alanine-valine) copy are bitter tasters, while AVI homozygotes are non-tasters. Other variants have intermediate bitter tasting: AAV&#6...