Endocrine Abstracts

Background: Mitotane antitumor efficacy is related to plasma levels. Objective responses have been associated with mitotane plasma levels >14 mg/l. However, high plasma levels >20 or >30 mg/l are at higher risk of toxicity, especially neurotoxicity. National-based survey is lacking to evaluate the frequency and severity of high mitotane plasma levels. Our aim was to retrospectively describe serious adverse events (SAE).Methods: Mitotane plasm...

Background: Coeliac disease (CD) is common in children with type 1 diabetes mellitus, so that CD screening of all asymptomatic diabetic children is carried out in many medical centres. While introduction of a gluten-free diet (GFD) might improve glycaemic control, the burden of two dietary regimes could adversely affect compliance.Aim: To assess the short-term effect of the diagnosis and treatment of asymptomatic CD detected by screening on diabetic cont...

Introduction: Insulinomas are the most common, functioning, pancreatic neuro-endocrine tumours. The minority of patients <10% who present with metastatic disease have a median survival of <2 years.We present a case of a gentleman with a 30 years history of Multiple Endocrine neoplasia type 1 (MEN1), which highlights the various modalities of treatment and the challenges from his progressive disease and marked symptomatic hypoglycaemia.<p clas...

Introduction: The growth of human tumors depends on the formation of new blood vessels and vascular endothelial growth factor (VEGF) helps control this process via inducing new capillaries to sprout from pre-existing blood vessels. Four cardiac hormones which eliminate up to 80% of human pancreatic cancers and up to 86% of human small-cell lung cancers growing in mice were investigated for their effects on VEGF and the VEGFR2/KDR/Flk-1 receptor. The VEGFR2 receptor is the main...

Background: Prolactin is associated with metabolic risk inside and outside of pregnancy. Maternal prolactin levels could be associated with offspring body composition.Aim: To investigate if maternal prolactin-levels were linked to offspring body composition at seven years of age.Design: Prospective observational cohort study (the Odense Child Cohort).Methods: Maternal fasting blood samples were assessed durin...

Endocrine-Related Cancer, 2021, 28(12): 757-772 (DOI: https://doi.org/10.1530/ERC-21-0211)...

Introduction: Gilbert syndrome is one of the most common inherited diseases, with a prevalence of 5–7%. It is caused by a mutation in UGT1A1 gene, which is in turn responsible for a deficiency in bilirubin glucuronidation. It courses with unconjugated hyperbilirubinemia, and jaundice may occur in adolescence, after fasting, exercise, or in menses, and also with certain drugs. Individuals with Gilbert syndrome seem to have a reduction in the prevalence of micro- and macrov...

Background: Individuals born Small for Gestational age (SGA) are at high risk of development of type 2 diabetes. Growth hormone (GH) therapy can also adversely affect glucose metabolism.Aim: To explore the factors associated with changes in insulin sensitivity (IS) and insulin secretion during one year of GH treatment in children born SGA.Methods: In the NESGAS clinical trial, we studied 82 (55♂) pre-pubertal children (age 3....

3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...

Background: Patients with congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency have poor health outcomes. We compared disease control in CAH adults treated with modified release hydrocortisone (MRHC, Chronocort®, Diurnal Ltd) versus standard glucocorticoid (GC).Methods: 6-month, Phase 3 study in 122 patients randomised to either MRHC twice daily or standard GC followed by safety extension study on MRHC. Patients had 24-hr 17...