Endocrine Abstracts

Introduction: Primary aldosteronism (PA) occurs due to an excess production of aldosterone in the adrenal glands, resulting in low renin levels and hypertension. Familial hyperaldosteronism is considered to be a relatively rare disorder, with only a small number of genes having been implicated so far. The aim of the present study is to identify the molecular cause of disease in a PA family, as well as examining the mechanisms in an in vitro setting.<p class="abste...

Introduction: Self-management of chronic disease is increasingly being recognised as an essential tool in chronic disease management. During the pandemic, face-to-face diabetes clinics were suspended, and resources were focussed on delivery of urgent care. A free NHS app was created to virtually deliver information on all aspects of type 1 diabetes management and to support patients in their self-management during an increasingly difficult period. The App included an ‘Ale...

Gigantism is an extremely rare condition and hence the relevant literature is largely a series of case reports. We present data on patients with gigantism <20 years of age identified from Pfizer’s Acrostudy registry of patients treated with pegvisomant.Eleven patients (5M) were identified: IGF1 at diagnosis was 1.6×ULN (1.15–3.3), height +5 SDS (1.1–3.8) and age 14.5 years (4–19). The three youngest (4, 7 and 14 years) had pi...

Background: Obesity plays an important role in the aetiology of polycystic ovary syndrome (PCOS). Variants in the fat-mass and obesity-associated (FTO) gene have recently been shown to influence adiposity and predispose to common obesity (Frayling et al., Science 2007 316 889–894).Aim: Our aim was to establish whether FTO variants are also implicated in PCOS-susceptibility.Methods: A genetic ...

Metabolic diseases are among the most important diseases in western societies and usually related to obesity. Dietary interventions are recommended for treatment and include both strategies with reduced caloric intake and alterations in macronutrient composition. Metabolism must be assumed to be regulated differently in females and males. In previous studies we demonstrated that low carbohydrate high fat (LCHF) diets affect GH/IGF-I axis in male rats. We know investigated whet...

Background/aim: Patients with germline mutations in the tumor suppressor PTEN frequently develop single or multiple lipomas. PTEN antagonizes the phosphatidylinositide3-kinase/AKT/mechanistic target of rapamycin (PI3K/AKT/mTOR) pathway, which promotes cell proliferation and is involved in adipocyte differentiation. The aim of this study was to investigate the mechanisms leading to aberrant adipose tissue growth using PTEN knock-down cell models....

Recent data suggest that not only caloric density but also macronutrient composition of diets can influence metabolism, body composition and the development of metabolic disorders. A limitation of previous studies was that effects were studied predominantly in males. To better understand potential differences in the response of males and females to manipulations of dietary macronutrients, our studies were undertaken in both sexes. As a dietary model, we used regular chow diet ...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of anterior pituitary, pancreatic islet and parathyroid tumours. Mice (Men1+/−) deleted for an MEN1 allele develop these tumours. The MEN1 gene encodes a 610 amino acid protein that has been reported to upregulate caspase 8 expression and promote apoptosis. To characterize the functional effects of menin loss in vivo, we asse...

Objectives: Alterations in glucocorticoid (GC) metabolism may contribute to the development of obesity and insulin resistance. We aimed to study the role of 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) in human adiposity, paying special attention to the association between altered GC metabolism and insulin sensitivity.Design: In 24-h urine samples of 72 extremely obese (mean BMI 45.5±1.1 kg/m2), but otherwise healthy patie...

Background: Primary squamous cell carcinomas of the thyroid are uncommon entities with less than 100 cases described in the literature.Case report: We report on the imaging findings in a rare case of primary squamous cell carcinoma of the thyroid that was found to be the primary tumour of humerus and cervical lymph node metastases. Other sources of squamous cell cancer were ruled out by a careful search, including whole body computed tomography (CT), pos...