Endocrine Abstracts

Neonates harbouring germline gain-of-function TSHR mutations (M453T, L629F) have been reported with transient proptosis. This resolves once euthyroidism is achieved. In contrast children expressing TSHR mutations (V597L, I486T) fail to thrive, with weight gain and height between the 0.4th and 2nd centiles. We have previously demonstrated TSHR expression in preadipocytes undergoing adipogenesis. We now investigate the consequences of constitutively active TSHR mutation expressi...

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...

A male patient treated with a thiazolidenedione (TZD) PPAR gamma agonist for Type 2 diabetes had a dramatic worsening of his thyroid eye disease (TED), which had been stable and inactive for more then two years. Expansion of the orbital fat seemed to be the underlying cause and we have investigated the effects of a PPAR gamma agonist (and subsequently an antagonist) on the adipogenesis of preadipocytes from 10 different patients, representing several fat depots, including TED ...

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...

Introduction: The prevalence of abnormal liver function tests (LFTs) in the general population has been estimated to be 8.1–9.8%. Abnormal LFTs are common in diabetes although there are still few studies describing the exact prevalence. AST-to-platelet-ratio-index (APRI) and Fibrosis-4-score (FIB4) are scoring systems which can be used to estimate the degree of liver fibrosis. An APRI score >1 has a sensitivity of 76% and a specificity of 72% for predicting cirrhosis ...

Background: The Controlled Antenatal Thyroid Screening II (CATS) study, a large randomised trial of thyroxine supplementation for suboptimal gestational thyroid function (SGTF), reported a higher prevalence of elevated attention deficit hyperactivity disorder (ADHD) scores in 9 year-old children exposed to higher thyroid hormone (TH) in utero. Here we investigated if this was accompanied by altered neurodevelopment.Methods: 85 children aged 11-1...

Background: An association between breast cancer (BC) and thyroid autoimmunity has been frequently observed, and several small-scale studies correlated the presence of autoantibodies to thyroid peroxidase (TPOAb) with an improved BC outcome. We aimed to clarify in a large cohort of patients whether circulating TPOAb are prognostic for BC recurrence.Materials and methods: Available plasma samples for patients with node-positive or high-risk node-negative ...

We conducted a retrospective study examining the prevalence of abnormal liver function tests (LFTs) in a diabetic population attending a tertiary referral centre and APRI and FIB4 scores were also calculated where possible. APRI and FIB4 scores can be used to estimate degree of liver fibrosis. APRI score >1 has 76% sensitivity, 72% specificity for predicting cirrhosis. APRI score >0.7 has 77% sensitivity, 72% specificity for predicting significant fibrosis. A FIB4 scor...

Introduction: The effects of mild subclinical hypothyroidism (SH; TSH <10 mU/l) on metabolic outcomes are unclear. This may relate to differences in aetiology, including thyroid autoimmunity or genetic factors such as TSH-receptor mutations (TSHR-M) and FOXE1 polyalanine tract length (FOXE1–PTL) polymorphisms, which are associated with altered thyroid function. We hypothesised that the metabolic manifestations of SH may depend upon its aetiology.<p class="abstext"...

Bone marrow stem cells (BMSCs) are able to differentiate along multiple lineages including adipogenic and osteogenic lineages. The adenosine A1 receptor (A1R) modulates adipose tissue function causing an inhibition of lipolysis. We therefore studied A1R expression in BMSCs induced to differentiate along the adipogenic lineage.BMSCs were isolated from rat femur (10 wk male Wistar), cultured in control medium (alphaMEM 10% FCS) and then plated into adipocy...