Endocrine Abstracts

Case history: Two unrelated male patients were referred for evaluation of short stature. The first patient aged 16.5 years, had a birth weight of 2.6 kg at term (BWSDS -2.4), height 153 cm (HSDS -3.2) at referral and normal BMI SDS of 0.6. He had early postnatal hypoglycemia, which was conservatively managed, but no other significant clinical history. He had relative macrocephaly and disproportionate short stature. His mother was also short with a similar phenotype (height 147...

Background: Pathogenic IGFI gene mutations causing childhood growth failure are extremely rare. Only five autosomal recessive mutations, one IGFI copy number variant and two heterozygous frameshift mutations are reported. Heterozygous missense IGFI mutations haven’t previously been described.Objectives: To identify and functionally characterise a novel missense IGFI variant in a patient with postnatal growth failu...

Background: Asprosin is a novel adipokine involved in appetite and glucose regulation. During obesity, circulating asprosin is increased, which leads to increased inflammation and can disrupt cellular functions such as mitochondrial respiration. Asthma is a comorbidity of obesity, with both diseases sharing an inflammatory profile and mitochondrial dysfunction. This study investigated the molecular links between asthma and obesity, by exploring whether asprosin causes mitochon...

Background: The use of peptide receptor radionuclide therapy (PRRT) for neuroendocrine tumors (NETs) is increasing, but PRRT remains palliative at this time. Estrogen (E2) has been extensively linked to cellular proliferation and DNA repair in other cancers. Our aim is to determine whether NET cells are similarly affected by estrogen and whether inhibition of estrogen receptor alpha (ESR1) increases radiosensitivity of NET cells, which could improve PRRT response.<p class=...

Introduction: Recent randomised controlled trials have demonstrated the efficacy of very low calorie diets (VLCD) in carefully selected patients with type 2 diabetes mellitus (T2DM). However, there is paucity of evidence regarding the efficacy of VLCD in the real-world setting. We evaluated outcomes in obese T2DM patients who underwent VLCD at our institution.Methods: This retrospective observational study included all patients who had undergone VLCD fro...

Background: Aldosterone-producing adenomas (APA) are a major cause of primary aldosteronism. Somatic mutations explain the excess aldosterone production in the majority of patients with APA with mutations in the potassium channel KCNJ5 the most prevalent. In contrast, mechanisms driving cell proliferation are largely unresolved.Objective: To identify genes that modulate cell growth in APAs.Methods: Quantitative transcripto...

Objective: Primary aldosteronism (PA) is the most frequent cause of secondary hypertension. According to the Endocrine Society Guidelines, up to 50% of hypertensive patients should be screened for PA, using the aldosterone to renin (or plasma renin activity (PRA)) ratio (AARR and ARR respectively). The automated Diasorin LIAISON chemiluminescent immunoassay for renin and aldosterone measurement became available and in many laboratories is currently used instead of the classica...

Background: Measuring testicular volume (TV) by orchidometer is a standard method of male pubertal staging. Previously we have developed a simulation model for TV estimation with different sized silicon testes housed in latex scrotum and displayed on paediatric mannequins. When used in a study of 215 paediatric endocrinologists TV was measured accurately on only 33% of occasions. Intra-observer reliability was also lacking with participants giving different estimations for the...

The pattern of food consumption has a profound influence on metabolic hormone secretion, but until recently only crude manipulations of feeding events have been possible in rodents. Using a CLAMS-based system to overcome this problem, we have investigated the effect of 3 weeks of grazing (consumption of 1/24th of the total daily food intake of ad libitum-fed controls every 30 min during the dark phase (18.00–06.00 h)) and meal feeding (three 1-h periods of ad...

Congenital hyperinsulinaemic hypoglycaemia is generally characterised by low levels of ketone bodies, fatty acids and branched chain amino acids at the time of severe hypoglycaemia, and by a requirement for a relatively high rate of glucose infusion (>10 mg/kg per min) to maintain euglycaemia. It is caused by physiologically inappropriate insulin secretion from the pancreatic beta cells due to mutations that uncouple insulin secretion from normal hyperglycaemic and other s...