Endocrine Abstracts

The common autoimmune endocrinopathies are caused by susceptibility alleles at several genetic loci including MHC, CTLA4, PTPN22 and probably several others. Many of these susceptibility alleles are shared between several different autoimmune disorders including type 1 diabetes, autoimmune thyroid diseases and rheumatoid arthritis. In recent months a novel susceptibility locus was identified in the 5’ end of the Fc receptor-like 3 (FCRL3) gene ...

ObjectiveDoes subclinical hypothyroidism (SCH)cause increased cardiovascular risk and how does treatment affect cardiac and vascular function in patients with SCH?MethodsCardiac function and central arterial stiffness(CAS)were measured in 20 females (mean age 50.1 plus/minus 4.1 years)with SCH (mean free T4 12.2 plus/minus 0.2 picomol per litre [normal range 9.8-22.1],median TSH 8.8 milliunits per litre[norma...

A previously well 46-year-old nulliparous woman presented with nausea, polydipsia, polyuria, nocturia, loss of appetite, weight loss of 3 months and secondary amenorrhoea of 9 months duration.Examination revealed the presence of a mass apparently arising from the pelvis, this being confirmed by CT scanning. Investigations: calcium 4.3millimols per litre, phosphate 0.8millimols per litre, albumin 45grams per litre, parathyroid hormone <0.6picomols per litre (1.6-6.9), gl...

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection and treatment by neonatal screening and administration of T4, is essential to prevent severe mental retardation and impaired growth.We report on two Welsh siblings, detected by neonatal screening, which had normal sized and placed glands but negative isotope uptake. Mutations resulting in CH are known to occur in 11 known genes, given the clinical presentation, we investigated the...

OBJECTIVE Measurement of serum testosterone level is an integral part of the assessment of men presenting to endocrine clinics. Little is known about variation of testosterone level by ethnic group. The principal determinant of testosterone bioavailability is sex hormone binding globulin (SHBG) which itself is a marker for insulin sensitivity. Our aim was to examine variations in testosterone and SHBG levels across three ethnic groups in relation to ethnic differences in insul...

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection by neonatal screening and T4 administration is essential to prevent severe mental retardation and impaired growth. About one third of CH is due to mutations in known genes including the thyrotropin receptor (TSHR).Two Welsh male siblings with CH were detected, both had normally sized and located thyroid glands, no iodide uptake and were negative for thyroid bloc...

The General Medical Council’s publication ‘Outcomes for Graduates’ places emphasis on doctors being able to integrate biomedical science, research, and scholarship with clinical practice. In response, a new paradigm of assessment was introduced for the intercalated Bachelor of Science (iBSc) in Endocrinology program at Imperial College School of Medicine. The approach involves authentic “active learning” assessments analogous to tasks encountered in a ...

The regulation of insulin and glucagon secretion has traditionally been attributed to the gut-brain axis and direct sensing of blood glucose levels by pancreatic islets. However, the enteric nervous system may directly modulate pancreatic hormone release. This study focuses on a specific population of enteric neurons that exhibit the capability to transmit signals from the gut to the pancreas, potentially revealing new pathways of metabolic regulation. The gastrointestinal tra...

Growing evidence implicates gut microbiota-derived metabolites in metabolic homeostasis. Gut microbial dysbiosis occurs in obesity, while high-fibre and high-protein diets, which improve glucose tolerance and induce weight loss, are associated with the generation of microbial metabolites. Understanding how the gut responds to microbial metabolites may identify mechanisms that induce satiety and improve glucoregulation, revealing novel therapeutic targets. Indole is generated f...