Endocrine Abstracts

A major difficulty of obesity treatments is that patients stop losing weight after a period of responsiveness and often experience a rebound. This could be caused by an impairment in energy balance circuits that becomes irreversible as obesity progresses. To test this hypothesis, we generated a reversible knockout-mouse model of early onset obesity. These mice are unable to express the proopiomelanocortin gene (Pomc) in hypothalamic neurons (CNS-Pomc−/...

Background: There are increasing evidences that inflammation is involved in the pathophysiology of both coronary heart disease and cerebrovascular disease. Adhesion molecules have been advocated as a marker of inflammation.Objectives: To evaluate the capacity of inflammation’s markers (sICAM1, sVCAM1) to identify cardiovascular disease, comparing adhesion molecules with a standard diagnosis of cardiovascular disease.Methods: W...

Cushing’s syndrome (CS) is associated with hypercoagulable state, mainly dependent on corticosteroid-induced increase of von Willebrand factor (VWF) levels, even though this does not affects all patients. In normals plasma VWF levels are genetically determined by ABO blood groups and polymorphisms G/C −1793, C/T −1234, A/G −1185, G/A −1050 of VWF promoter. These SNPs segregate as haplotype 1 (G/C/A/G) and haplotype 2 (C/T/G/A) with genotype 1/1 (GG...

Cardiovascular diseases (CVDs) represent a complex and multifactorial issue that results from a combination of behavioural, genetic and environmental factors. Toxic metal contaminants, many of which act as endocrine disruptors (EDs), have been identified as potential risk factors for CVDs. Among EDs Cadmium (Cd), present both in cigarettes and in food, has been suggested to be cytotoxic on vascular endothelium, likely leading to blood pressure increase and vascular inflammatio...

The coexistence of Graves disease (GD) and thyroid carcinoma used to be considered uncommon, but association between the two is being progressively acknowledged. Case report: We present the case of a 69-year-old woman with a 10 year history of GD who was referred to our clinic for fatigue, sweating, palpable cervical mass and weight loss. She was treated only in the previous 5 months with block and replace therapy. Laboratory workup at admission showed s...

Hypothalamic GH releasing hormone (GHRH) has hypnotic actions by increasing slow wave sleep (SWS) (non-rapid eye movement sleep, non-REM), which account for about 75% of sleep. Conversely, GH may stimulate the rapid eye movement sleep (REM). Patients with GH deficiency (GHD) often exhibit sleep problems leading to daytime fatigue and reduced quality of life (QoL). We have described a cohort of patients with isolated GHD (IGHD) due to GHRH resistance caused by a homozygous null...

Ocular function is fundamental for environmental adaptation and survival capacity. Growth factors are thought to be necessary to reach a mature eyeball and consequent adequate vision. However, the consequences of the deficiency of circulating growth hormone (GH) and its effector insulin-like growth factor I (IGF-I) on the physical aspects of the human eye are still debated. A model of untreated isolated GH deficiency (IGHD) may clarify this issue. The aim of this study was to ...

Familial isolated growth hormone deficiency is exceedingly rare. We present two siblings of non-consanguineous parents with this syndrome and describe their response to growth hormone therapy. We have also carried out a mutational analysis of their GH1 and GHRH-R genes.A mutation scan of the entire coding region and flanking intronic sequences of GH-1 and GHRH-R was undertaken in both index cases and parents. GH1 and GHRH-R mu...

The highly toxic heavy metal Cadmium (Cd) is widely spread in the environment and could exert estrogen-like activity in tissues including breast. Previous studies demonstrated that Cd binds to estrogen receptor α positive (ERα+) breast cancer (BC) cells. In this new study, we evaluated effects of Cd on both ERα+ and ERα negative (ERα-) BC models with the aim to further characterize the mechanisms involved in Cd-related BC carcinogenesis. Specifically, ...

Introduction: High androgen levels and infertility in reproductive women, beyond the most common cause of polycystic ovary syndrome (PCOS), is often a challenge diagnosis. Ovarian steroid cell tumor is considered a rare subtype of hormone-secreting ovarian tumor, accounting for about 0.1% of all ovarian tumors.Aim: To report a case of extremely high testosterone levels in a woman with secondary amenorrhea but without signs of virilization, and describe d...