Endocrine Abstracts

Background: Low testosterone levels are a common finding in men with type 2 diabetes and are also associated with low HDL cholesterol (HDL-C) levels which are an independent risk factor for cardiovascular disease. The androgen receptor CAG repeat polymorphism (AR CAG) and GGN repeat polymorphism (AR GGN) affect receptor function such that shorter AR CAG and AR GGN=23 are associated with greater transcriptional activity in vitro.Methods and results...

Introduction: Congenital hypothyroidism (CH) occurs 1 in 3,000-4,000 live-births. The causes of CH can be divided into two groups: thyroid developmental defects (thyroid dysgenesis) and inborn errors of thyroid hormone biosynthesis (dyshormonogenesis). Although mutations in paired box gene 8 (PAX8) usually cause thyroid dysgenesis, they have been reported in association with eutopic thyroid gland without function. PAX8 has been described to have a role in regulating the expres...

Background: HADH encodes for the enzyme 3-hydroxyacyl-coenzyme A dehydrogenase (HADH) and catalyses the penultimate reaction in the beta-oxidation of fatty acids. Mutations in the HADH gene have recently been described to cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). Protein sensitive HH (specifically leucine sensitivity), is also associated with the hyperinsulinism-hyperammonaemia syndrome (HI/HA syndrome) caused by activating mutations of GLUD1 ...

Background: Hyperinsulinism–hyperammonaemia (HI/HA) syndrome is caused by gain of function mutations in the GLUD1 gene. Patients present with recurrent hyperinsulinaemic hypoglycaemia (HH) together with asymptomatic, persistent elevation of plasma ammonia levels. Leucine sensitivity is an important feature of this condition.Objectives: The aim of this study was to understand the genotype phenotype correlations in patients with HH due to GLUD1 mutati...

Testosterone has immune-modulating properties and current in-vitro evidence suggests that testosterone may suppress the expression of the pro-inflammatory cytokines Tumour Necrosis Factor (TNF alpha), interleukin (IL)-1 beta and IL-6 and potentiate the expression of the anti-inflammatory cytokine IL-10. We report a randomised single-blind placebo-controlled crossover study of testosterone replacement (Sustanon 100) versus placebo in 27 men (age 62+-9years) with symptomatic and...