Endocrine Abstracts

Introduction: Adrenocortical carcinoma (ACC) is a rare but devastating malignancy. We performed a review to determine outcome in our patient cohort.Of 20 patients 14 were females, six males. Median overall survival was 27.5 months (range 1–168), nine being deceased. Mean age at presentation 52.3 years (range 18–71). The majority of cancers were large; 5% ≤5 cm, 40% 5–10 cm, 55 >10 cm. 25% had stage IV disease, 10% stage III, 55% ...

Although MRI remains the investigation of choice for pituitary imaging, it does not reliably identify all secretory microadenomas, and cannot always discriminate residual tumour from post-surgical change following hypophysectomy. We hypothesised that i) imaging with the PET ligand 11C-methionine, which is taken up at sites of peptide/protein synthesis, would permit more reliable identification of functioning pituitary adenoma, and ii) co-registration of PET–CT ...

Peroxisome proliferator activated receptor gamma (PPARγ), a ligand-inducible transcription factor, is essential for adipocyte differentiation and lipogenesis. We previously described a kindred in which some individuals were heterozygous for a frameshift/premature stop mutation, (A553ΔAAAiT)fs.185(stop186) in PPARγ, with the truncated protein being non-functional and lacking dominant negative activity1. PPARγ null heterozygotes had norm...

Leptin and adiponectin are cytokine-like hormones secreted by white adipose tissue. Plasma leptin correlates closely with total body fat mass, and its secretion is positively regulated by insulin in vivo and in vitro. Hypoleptinaemia is a key centrally-mediated orexigenic stimulus. Plasma adiponectin, in contrast, correlates negatively with whole body fat mass and insulin resistance in adults, and its expression is regulated negatively by insulin in vivo a...

BACKGROUND: Primary hyperparathyroidism (HPT) is increasingly diagnosed, particularly in an older population. Recent studies indicate improvement in bone mineral density (BMD) and psychological wellbeing even following treatment of apparent asymptomatic disease, supporting a lower threshold for surgical intervention. With disease being due to a solitary adenoma in most (83%) cases, we have utilised preoperative imaging together with intra-operative parathyroid hormone (IOPTH) ...

Objectives: In 2011, we described the first case of Resistance to Thyroid Hormone due to a mutation in thyroid hormone receptor a (RTHα) in a six year old child with features of congenital hypothyroidism but near-normal thyroid function tests. Here, we report outcomes following twelve years of thyroxine therapy in this patient.Methods: Colonic contractility, intestinal transit time, growth, resting energy expenditure, heart rate and biochemical para...

Context: Severe or ‘classical’ growth hormone insensitivity (GHI) is characterised by extreme short stature, dysmorphism and metabolic anomalies. It is caused by homozygous or compound heterozygous mutations of the Growth Hormone Receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of gene(s). The non-coding regions of the genome may harbour numerous disease-causing mutations that are not well recognised or understood.<p clas...

Background: The pathogenesis, biologic behavior, and treatment of well-differentiated neuroendocrine tumors (NET) and poorly differentiated neuroendocrine carcinomas (NEC) are different. The diagnosis relies on multiple factors, but pathologic assessment is crucial. Based on currently available diagnostic criteria, the distinction between NET G3 and NEC are made on morphologic assessment, without taking Ki-67 proliferative index into consideration. This study looks at the conc...

Background: Although MRI remains the investigation of choice for pituitary imaging, it does not provide information about the ‘functionality’ of lesions (e.g. residual adenoma vs post-surgical scar tissue), and cannot reliably identify all microadenomas. These limitations are of particular relevance in acromegaly where clinical and biochemical evidence of disease activity mandates (further) treatment.Methods: We hypothesised that i) imaging wit...

Introduction: Our Centre receives international referrals for genetic analysis of children with short stature (SS) and features of GH/IGF-1 insensitivity. Copy number variation (CNV) hasn’t previously been investigated in GH/IGF-1 insensitivity. We hypothesised CNVs contribute to the phenotype in our undiagnosed cohort.Experimental design/methodology: CGH was performed with oligonucleotide array using ~60,000 probes in 60 patients (38 M, mean age 7....