Endocrine Abstracts

Introduction: Osteoporosis is a metabolic bone disease, characterized by reduction and changes in the bone mass quantity and quality, leading to an increased risk of fractures. It can be divided in primary (postmenopausal or senile), secondary and idiopathic. In the presence of osteoporotic fractures, particularly in men before the age of 65, it is essential to investigate the presence of secondary causes in order to establish an etiological therapy.Case...

Background: Denosumab (Dmab) is a human monoclonal antibody with an anti-reabsorptive bone effect, used in osteoporosis treatment. It is also suggested that Dmab may improve glucose tolerance through the reduction of hepatic insulin resistance. Some studies have suggested that insulin sensitivity and glycemia can influence bone metabolism.Aims: To evaluate the relationship between bone turnover markers (BTM) and insulin resistance and glycemia in fractur...

IntroductionMaturity Onset Diabetes of the Young (MODY) type 1 is characterized by mutations in hepatocyte nuclear factor 4a (HNF4a) gene, leading to progressive dysfunction of pancreatic beta-cells with optimal response to sulphonylurea treatment. However, most of these patients are initially misdiagnosed as having type 1 diabetes and inappropriately treated with insulin. Data on adequate transferring from insulin to sulphonylureas following gen...

Introduction: Klinefelter syndrome (KS) is the most common congenital abnormality causing primary hypogonadism. It occurs in about 1 in 660 live male births. The clinical manifestations include tall stature, small testes, gynecomastia and neurocognitive impairment. Nevertheless, the KS phenotype varies greatly, which might be one of the reasons why the syndrome is highly underdiagnosed. KS is associated with several clinical conditions and increased morbidity/mortality. Testos...

Objective: To analyze the clinicopathological features of pseudohypoparathyroidism (PHP), that would help clinicians to consider this rare condition in children.Methods: A retrospective review of nine patients with PHP (including seven males and three females) admitted to our hospital between 1990 and 2014 was conducted. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed.Results: The mea...

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...

Patients suffering from low-grade chronic inflammatory diseases such as rheumatoid arthritis, osteoarthritis, diabetes and obesity have low plasma SHBG levels. These diseases are characterized among other features by high plasma IL1β levels. The aim of the present study is to explore whether IL1β could regulate hepatic SHBG production to account for low SHBG levels in these diseases. We provide evidence that daily IL1β treatment reduces SHBG production in HepG2 ...

The reason why obesity (a chronic low-grade inflammatory disease) is associated with low levels of sex hormone-binding globulin (SHBG) remains to be elucidated. In the present study we provide evidence that TNFα (a proinflammatory cytokine that increases with obesity) reduces SHBG production by human HepG2 hepatoblastoma cells. The effect of TNFα on human SHBG expression was mediated by NF-κB which causes the downregulation of HNF4α: a key SHBG transcriptio...

Introduction: Triple X syndrome is the most common female chromosomal abnormality, with an estimated incidence of 1/1000 female newborns. Most of the women are phenotypically normal, apart from being taller than average. Possible additional problems are psychiatric disorders, genitourinary malformations, EEG abnormalities, scoliosis and premature ovarian insufficiency.Case report: 46-year-old female, referred to the Endocrinology department due to second...