Endocrine Abstracts

Sex steroid hormones play a pleomorphic role in preservation of BMD. The BMD, the blood circulating 25-hydroxyvitamin D [25(OH)D], testosterone and estradiol levels may decline with age and to contribute to bone fragility. Low vitamin D is associated with increased falls number and fractures.Recently, a new software solution, 3D-SHAPER - allows measurements of both trabecular and cortical bone as well as 3D images -, it incorporates a model-bas...

Introduction: The XXYY Syndromeis an extremely rare sex chromosomal disorder characterized by the presence of extra X and Y chromosomes, and clinically by tall stature, dysfunctional testes associated with infertility and hypogonadism, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.Case report: A 46-year-old man was referred to theFracture Osteoporosis OutpatientClini...

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 serotonin transporter gene (SLC6A4) polymorphism 5HTTVNTR and serotonin receptor 2A polymorphism 5HT2A_T102C with bone mineral density and metabolic parameters of bone remodelling.Materials and methods: BMD (g/cm2) was measured by DEXA in 105 post-menopausal women: 35 with normal BMD (age=58.30±1.33 years; BMI=28.18 [19.13-39.87] kg/m2) and 70 with osteoporosis (age=68.30±1.09 years; BMI=28.90 ...

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: Osteoporosis is a common metabolic bone disease characterized by reduced bone mass and increased risk of fragility fractures. The pathogenesis of this disease is complex and influenced by multiple risk factors, where genetic factors play an important role. Menopause predisposes women to osteoporosis due to declining estrogen levels. Osteoporosis and iron metabolism have an important relationship. Iron overload suppresses osteoblast formation and stimulate osteocl...

Introduction: Hypogonadism is common and occurs prematurely in human immunodeficiency virus (HIV)-infected men, being hypogonadotropic hypogonadism (HH) more frequent. However, HH with very low testosterone has not been described. We present three HIV-infected men with severe HH and normal pubertal development.Case report: Three HIV-infected men, with HIV-1 diagnosis at the ages of 22, 34 and 35 years. Two of them had depressive syndrome, one treated wit...

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...