Endocrine Abstracts

Fibro-adipogenic progenitors (FAPs), a muscle-resident stem cell population, have recently emerged as important actors of muscle regeneration by interacting with myogenic progenitors (MPs) to promote the formation of new muscle fibers. However, in pathological condition, as muscle dystrophies, this coordinated response is lost and then an accumulation of FAPs is observed. In particular, in a mouse model of Duchenne muscle dystrophy (mdx), the accumulation of a specific subpopu...

Objectives: The interaction between genetic predisposing factors and environmental triggers is crucial for the development of HT. In last decades, the steady rise in frequency of HT in developed countries pointed to a strong influence of changing environmental factors, including increased pollution. Air pollutants, like dioxins and polycyclic aromatic hydrocarbons, are ligands of the aryl hydrocarbon receptor (AHR). This ligand-activated transcription factor, involved in pollu...

Background: The typical biochemical phenotype related to obesity, that is high serum TSH within normal range, low/normal free thyroxine (FT4) and increased free triiodothyronine (FT3) levels, can be interpreted as a resistance to thyroid hormones. It is unclear the role played by thyroid hormones in the pathogenesis of metabolic derangement associated with obesity. Aim: To investigate the association between thyroid hormones sensitivity and cardio-metabo...

Introduction: Phosphatase and tensin homolog gene (PTEN) gene encodes a lipid phosphatase that plays a central role in cell-cycle processes. PTEN hamartoma tumour syndrome (PHTS), caused by the mutation of the PTEN gene, is a diverse multi-system disorder. PHTS is characterised by the hamartomatous growths, increased risk of breast, thyroid, and renal cancers. In terms of thyroid presentation of PHTS, there is up to 75% risk of multinodular goitre and the life...

Gas chromatography mass spectrometry (GC-MS) is the gold standard for urinary steroid profiling. Our established GC-MS method quantifies mineralocorticoids, glucocorticoids, and androgens. GC-MS assays require chemical derivatisation and long run times, rendering them unsuitable for high-throughput analysis. Our aim was to develop and validate a high-throughput urinary steroid profiling method using ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-LC...

Comprehensive multi-steroid profiling offers a powerful tool for the investigation, diagnosis and management of steroidogenic disorders by simultaneously quantifying multiple steroids from several pathways of steroid biosynthesis and metabolism. Difficulties can arise when optimising chromatography and mass spectrometry conditions for many analytes in a single method. Low concentrations of ammonium fluoride have previously been shown to enhance the sensitivity of select analyt...

Introduction: Delayed puberty is a common indication for referral to paediatric endocrine services. Although guidelines exist for management of testosterone replacement in adults, currently it is not clear what the optimum regimen for testosterone therapy is for children or how best to monitor boys throughout treatment.Aims: To identify the characteristics of testosterone therapy in boys referred for delayed puberty.Methods: Retros...

Background: Development of multi-steroid profiling allows comprehensive investigation into the different branches of steroid metabolism. Immunoassays only allow analysis of a single steroid per assay and suffer from problems with specificity due to cross reactivity of similar steroids. Liquid-chromatography mass spectrometry has the specificity to analyse multiple steroids in a single experiment and the dynamic range to quantify steroids at high concentrations such as those ob...

Regulators are concerned about the potential for environmental chemicals such as agrochemicals and their metabolites to perturb hormone systems. This has led to recommendations for the testing of potential endocrine disrupting chemicals1. The Steroidogenesis H295R assay is an in vitro cell model used to investigate compound effects on steroid hormone biosynthesis, specifically 17β-estradiol (E2) and testosterone (T). The human H295R adreno-carcinoma ce...

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...