Endocrine Abstracts

Primary aldosteronism is an endocrine form of hypertension which is highly prevalent among hypertensive population but its rate of detection is far lower than its real prevalence.This might be due to lack of adequate information or expertise in general practitioners or even among hypertension specialists, other than endocrinologists. As PA is common, and has a much higher cardiovascular risk profile than age-, sex-, and blood pressure (BP)–matched e...

Together with Profs Lefkowitz and Kobilka, G-protein-coupled receptors (GPCRs) have taken the stage in the 2012 Nobel award for Chemistry. The Royal Swedish Academy of Sciences states that ‘About half of all medications achieve their effect through G-protein-coupled receptors’. As shown in previous talks in this session, GPCRs are not acting individually; often they form homodimers and, more interestingly, they may occur as heterodimers. Heteromers open a completely ...

Phaeochromocytoma (PH) and functional paraganglioma (FPGL) are neoplasm of chromaffin tissue that synthesise catecholamines and are mostly located in adrenal medulla (PH) or elsewhere (FPGL). Patients may also harbour non-secreting head and neck paragangliomas (PGL). Up to ¼ of PH/PGL are familial. A high degree of suspicion for PH and FPGL should be risen in case of spells, resistant hypertension, family history of PH/PGL, a genetic syndrome that predispose to PH (e.g. M...

Introduction: Since 2012, different heterozygous mutations in the THRA gene have been described in patients with resistance to thyroid hormone alpha (RTHα). The associating symptoms are reminiscent of untreated congenital hypothyroidism (growth retardation, psycho-neuromotor disorders, delayed bone development and bradycardia) but with raised T3/T4 ratio and normal TSH levels. All genetic abnormalities act in a dominant negative (DN) manner against functional rec...

Introduction: Androgen secreting neoplasms of the ovary are rare and usually show autonomous secretion. Steroid cell tumors of the ovary represent less than 0.1% of all ovarian tumors and are a subgroup of sex cord-stromal tumors. In most cases, patients present with androgenic clinical features.Case report: A 58-year-old woman complained of rapid onset of androgenic alopecia, excessive hirsutism and clitoromegaly. Endocrine assessment showed high levels...

Primary aldosteronism is the most common form of secondary hypertension. The detection of primary aldosteronism is of particular importance, because it provides an opportunity for a targeted treatment (surgical for unilateral forms and medical with mineralocorticoid receptor antagonists for bilateral forms). PA diagnosis comprises screening, confirmation testing and subtype diagnosis.Guidelines recommend that all patients for whom the surgical treatment ...

It is well established that oestrogens participate in the control of normal spermatogenesis and endogenous or environmental oestrogens are involved in pathological germ cell proliferation including testicular germ cell tumours. The effects of oestrogen are now known to be mediated by oestrogen receptor-α (ERα) and ERβ subtypes, but only ERβ has been found in human germ cells of normal testis. However, its expression was markedly diminished in seminomas, emb...

We describe a case of severe hypocalcemia after methimazole treatment for Graves disease, which closely resembles classic hungry bone syndrome.A 41-year-old woman with a history of Graves disease presented to our Internal Medicine ward with tachyarrythmia. Laboratory data showed a severe hyperthyroidism, an ecocardigraphy demonstrated a dilated cardiomyopathy. The patient was given beta-blockers, low molecular weight heparin, and methimazole (30 mg/day)....

Background: Sodium-glucose cotransporter-2 (SGLT2) inhibitors are a new class of oral anti-diabetic medications that improve glycaemia by reducing the amount of glucose being absorbed in the kidneys. SGLT2 inhibitors have been proven to improve blood pressure, cardiovascular health and kidney disease. Despite their beneficial clinical effects, their exact mechanism of action is not fully explored. The aim of this project was to investigate the effect of SGLT2 ...

Understanding how pancreatic beta-cells develop during human development is essential to advance current protocols aimed at developing insulin-producing beta-cells in vitro and highlight therapeutic targets for diabetes treatment. Identifying the single-gene mutations which result in individuals developing diabetes in the first 6 months of life (a condition called neonatal diabetes) has the potential to give unique insights into the genes regulating human beta-cells w...