Endocrine Abstracts

5 α-reductase deficiency is a rare autosomal recessive condition of male psuedohermaphroditism, resulting from mutations of the type 2 isoenzyme 5 α-reductase, crucial in conversion of testosterone to dihydrotestosteroneCase report: Baby P is a full term baby, a product of a consanguineous marriage. The baby had ambigous genitalia with a clitoris, minimal glans tissue at the apex of the labial folds, gonads in the labioscrotal folds and a ureth...

BackgroundPreliminary in vivo studies have shown that fatty acid composition of membranes, where insulin receptors are embedded, can provide significant correlations for insulin resistance. Docosahexaenoic acid (DHA) is a member of the n-3 polyunsaturated fatty acid family present in the membrane that may modulate insulin action. The aim of the study was to investigate if variation in insulin sensitivity is related to variation in DHA in red blood...

Background: Auto-immune Addison’s disease (AAD) is the most prevalent cause of primary adrenal insufficiency in the UK. Co-morbidities are commonly associated with AAD and can manifest years after the initial diagnosis. There is no clear consensus on the optimal surveillance and management of this condition.Objectives: To establish the prevalence of co-morbidities, assess bone health and review clinical surveillance practice of patients attending an...

Inactivating mutations in the thyroid hormones (TH) transporter monocarboxylate transporter 8 (MCT8) lead to the X-linked rare disease named MCT8 deficiency or Allan-Herndon-Dudley Syndrome (AHDS). AHDS pathophysiology is characterized by peripheral hyperthyroidism and cerebral hypothyroidism, which results in severe neurological impairments. Although AHDS leads to a spectrum of severe endocrine and neurological alterations, treatment options for MCT8-deficient patients are li...

Parathyroidectomy is the only definitive cure for primary hyperparathyroidism (PHPT). The standard for pre-operative localisation of parathyroid pathology at our institution is both a (99m)Tc-sestamibi SPECT/CT (sestamibi) and neck ultrasound scan (USS). The aim of this audit was to assess the accuracy of this standard pre-operative imaging.Methods: Retrospective data was gathered from all parathyroidectomies performed at St Thomas’ Hospital between...

Background: Because type 1 diabetes (T1D) results from the T cell-mediated destruction of the insulin-producing pancreatic beta cells, the depletion of the autoreactive T cells via apoptosis represents a viable strategy for the prevention of autoimmune diabetes. The functional role TNF Related Apoptosis Inducing Ligand (TRAIL), a novel member of TNF superfamily, in autoimmune diabetes remains unknown. To understand this, TRAIL function was counteracted by an injection of solub...

3-Iodothyronamine (T1AM) is a novel endogenous derivative of thyroid hormone (TH), recently described by Scanlan et al. (Nat. Med. 10: 638, 2004). In vitro, T1AM can stimulate the production of cAMP via activation of a heterologously expressed G protein-coupled receptor (GPCR) now referred to as trace amine-associated receptor 1 (TAAR1; Lindemann et al. Genomics 85: 372, 2005). In adult, unanesthetized C57Bl6/J mice, T1AM produces prof...