Endocrine Abstracts

Meningiomas are the most common intracranial tumors accounting for 20 to 30% of central nervous system tumors. Currently, only two risk factors have been highlighted: the history of exposure (therapeutic or accidental) to ionizing radiation, and some genetic predispositions syndromes in particular Neurofibromatosis type 2. Given the feminine predominance and the presence of progesterone receptors expression in meningiomas, authors began to focus on hormonal factors as a risk f...

Objective: Though many studies have looked at the neonatal outcomes in patients with gestational diabetes on different medications, there is no consensus on the preferred drug for initiation of therapy. We aim to compare the neonatal outcome in a cohort of patients attending our service, to determine if one modality is superior to the other.Methods: This study is a prospective observational study from 1-07-2015 to 31-04-2016. The data of all gestational ...

Background: Phaeochromocytoma and paraganglioma (PPGLs) are rare neuroendocrine tumours arising from the adrenal medulla and paraganglia. Biochemical assessment relies on demonstrating elevated concentrations of catecholamines and their metabolites. Analytical methods for catecholamine and metanephrine measurement vary in sensitivity and specificity. We reviewed our biochemical work-up in order to optimise patient diagnosis.Methods: This retrospective au...

Background: ALMS1 is a 461kDa protein that, when mutated, causes Alström syndrome (AS). AS is a rare autosomal recessive disorder characterized by childhood obesity and early-onset insulin-resistant diabetes, amongst other features. Studies using primary human adipocytes revealed that ALMS1 is critical for insulin-regulated glucose transport. The predilection for insulin resistance and T2DM in AS children seems to reflect a hitherto uncharacterized role of ALMS1 in the in...

Sex development in zebrafish is highly plastic, making this species an ideal model for investigation of endocrine disruption and gonadal development and function. However, the hormonal regulation of these processes in zebrafish is poorly understood. We have used a model of androgen and glucocorticoid deficiency to explore these processes. In humans, ferredoxin (FDX1) is an electron-providing cofactor required for steroid biosynthesis. The zebrafish homologue of FDX1, ...

Gangliocytomas are uncommon neuronal tumors that can sometimes cause endocrine syndromes. A few such cases have been reported in association with Cushing’s disease. In most instances, the tumor contained CRH and was associated with pituitary corticotroph hyperplasia or adenoma (mixed lesion). Only one case of isolated gangliocytoma causing Cushing’s disease per se has been described.We report the case of a 62 year-old woman whose clinical pictu...

Background: Changes in gut hormone levels after laparoscopic sleeve gastrectomy (LSG) has been proposed as a possible mechanism that explains the long-term weight loss and the improvement in glucose homeostasis after bariatric operations. In this prospective study we evaluated the changes in the fasting and postprandial levels of glucagon like peptide-1 (GLP-1), peptide YY (PYY), insulin and glucose during the first postoperative year after LSG.Methods: ...

Background: 5α-Reductase type 2 deficiency (5ARD) is caused by mutations in the SRD5A2 gene. Inadequate masculinisation in XY individuals results from failure to convert testosterone (T) to dihydrotestosterone (DHT), a potent androgen. A decreased serum T:DHT ratio is frequently taken to identify 5ARD, but requires hCG stimulation for prepubertal patients; findings are not always supported by genotyping. Urine steroid profiling (USP) by GC-MS is established as showing sig...

Introduction: For diagnostic purposes, total-testosterone levels are generally assessed in plasma. However, as the primary site of action of testosterone is in tissue, evaluation of the distribution of testosterone in tissue fluids could give enhanced insight into the (patho)physiological state. Clinical microdialysis allows for sampling at tissue level based on diffusion.Objective: To compare the increase in testosterone levels in tissue and plasma afte...

Adaptation of oxidative metabolism is essential for meeting different energy demands in different tissues, or altered energy demands in response to stressors, such as exposure to cold. The orphan nuclear receptor ERRα (estrogen-related receptor alpha) is implicated in the regulation of energy metabolism. ERRα expression is high in tissues with high oxidative capacity and increased at physiologic states of increased energy demand. Moreover, ERRα activity and expr...