Endocrine Abstracts

Background: HDR syndrome also known by the eponym Barakat syndrome, is a rare, autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural hearing loss, and renal abnormalities. It is caused due to mutation (haploinsufficiency) in GATA3 gene on chromosome 10p with a wide spectrum of phenotypic variations.Case Presentation: A 33-year-old lady presented to emergency department with an episod...

Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disorder characterised by muscle wasting and weakness. It is often associated with intracellular hypercalcaemia in dystrophin deficient muscle leading to disease progression. We present a comprehensive case report of extracellular hypercalcaemia in a DMD patient, a rare complication, emphasising the interplay of iatrogenic factors, immobilisation, and therapeutic approaches.<p class="abs...

Introduction: Immune-checkpoint inhibitors are used in patients with advanced cancers. They are associated with a wide array of side effects known as immune-related adverse events (irAEs). These can affect skin, gastrointestinal tract, multiple endocrine glands, liver and other systems. We report a 69-year-old male with a past medical history of Chronic Obstructive Pulmonary Disease and Lung cancer who was referred by the oncology team with a clinical and biochemical picture o...

Background: Thyroid hormones increase both serum levels of cystatin C and renal glomerular filtration rate (reflected by lower serum creatinine); the latter is considered the main determinant of cystatin C levels. A potential explanation for this apparently discrepant finding is an increased production, rather than a decreased clearance, of cystatin C. To study whether 3,3′,5-triiodo-L-thyronine (T3) increases the production of cystatin C in a w...

Aims/hypothesis: Several data have shown the association between diabetes type 2 (DM2) and transcription factor 7-like 2 (TCF7L2) gene polymorphisms, in several and different ethnical populations. Although the pathophysiology is not completely clear, it seems that beta and alpha cell functions are abnormal. Up to these days there is no clinical data showing association between TCF7L2 gene polymorphism allele rs7903146 T and beta cell insulin and C-peptide contents in DM2 patie...

Background: IGF-1 is a ubiquitous growth factor that has been shown to play an important role in breast tissue development and tumorigenesis. Previously we have shown that IGF-1 expression is lost in approximately 1/3 of breast carcinomas. It is unsure whether this indicates the existence of a subset of breast cancers that may behave differently clinically and on a molecular level. Aims: To assess and quantify the mRNA expression of (i) Cox-2 and c-myc, genes imp...

Case history: A 23-year-old Caucasian nurse presented with six months of frequent recurrent symptomatic hypoglycaemic episodes with capillary blood glucose ranging between 1.2 and 3.5 mmol/l and symptoms improving after a carbohydrate snack or a drink. The episodes were more likely to occur during fasting state and after excess physical activities. A careful history excluded intake of any off-prescription medications, dfrugs or psychosocial problem.Inves...

It has been reported that Ang II induces the growth of MCF-7 breast cancer cells (Muscella et al., J Endocrinol 173, 315-323, 2002). Here we have examined the signalling pathways evoked by Ang II in MCF-7. Ang II did not change the concentration of intracellular calcium but induced the cytosol-to-membrane translocation of atypical protein kinase C zeta (PKC-zeta). Ang II dose-dependently induced c-fos (mRNA and protein) and enhanced the phosphorylation state of extracellular s...

Background: PCO is more prevalent among SA than C and IR is central to its pathogenesis; whilst Type 2 diabetes (DM) is commoner in SA. We compared the phenotype and IR in South Asian and Caucasians with PCOS.Methods: Comparison of consecutive anovular PCOS; 47 SA and 36 Caucasians and their age and weight matched controls (11 SA and 22 Cs).Results: SA presented earlier (age 26 plus/minus 4 v 30.1 plus/minus 5, p = 0.005). BMI (24....

Interferon alpha (IFNα) and Ribavirin combination therapy effectively eradicates Hepatitis C Virus (HCV) in up to 80% of patients. Transient thyroid dysfunction (TD) (>80% hypothyroidism) usually due to a destructive thyroiditis has been recognised to occur in up to 25% of patients treated in Italy, Japan and Australia. However, data are lacking in a UK cohort and no standardised protocol for testing of thyroid function testing exists. The aim of this study was to det...