Endocrine Abstracts

Background: Transformation of the South Wales NET service in late 2017 introduced new specialised staff, gastroenterology-led clinics and MDTs with a particular emphasis on educating referring specialties on NETs. Data has shown patient experience, satisfaction rates, quality of life and gastrointestinal symptom scores have all improved. This study aims to describe findings from new NET service data for: referrals into the service, diagnosis times after symptoms, and initial s...

Background: Urinary steroid metabolite profiling is an accurate reflection of adrenal and gonadal steroid output and metabolism in peripheral target cells of steroid action. Measurement of steroid metabolite excretion by gas chromatography-–mass spectrometry (GC–MS) is considered reference standard for biochemical diagnosis of steroidogenic disorders. However, performance of GC–MS analysis and interpretation of the resulting data requires significant expertise a...

Polycystic ovary syndrome (PCOS) is prevalent metabolic disorder in women, associated with androgen excess and insulin resistance. These two major features are closely correlated, but the direction of causality remains unclear. Aldoketoreductase type 1C3 (AKR1C3) converts the androgen precursor androstenendione to testosterone (T), and is highly expressed in subcutaneous (SC) adipose tissue. We hypothesised that adipose tissue represents an important site linking androgen acti...

Abstract: PCOS prevalence is reported to be increased in reproductive-age women with type-1 diabetes (T1DM) but measurement of androgens, crucial for diagnosis, has been with inaccurate immunoassays. No studies have been reported using liquid-chromatography-mass-spectrometry (LCMS). Reproductive-age T1DM women attending a single centre were evaluated for PCOS (NIH criteria). Women with T1DM and PCOS (T1/PCOS) were compared to T1DM women without hyperandrogenism (T1/no HA), and...

Abstract: The prevalence of hyperandrogenism has been reported to be increased in reproductive-age women with type-1 diabetes (T1DM). This observation however is based on findings using inaccurate immunoassays. No studies have been reported in diabetes using liquid-chromatography-mass-spectrometry (LCMS). We compared LCMS-measured androgens in T1DM-women with age-/ BMI-matched normal women, and compared findings with those in women with type-2 diabetes (T2DM) also compared to ...

Background: Impaired Insulin-like growth factor-1 (IGF-1) function is associated with obesity and hypertension, but the correlation of circulating IGF-1 with these conditions is weak. As a metabolite of IGF-1, the ratio of cGP/IGF-1 regulates IGF-1 bioavailability and may be a more accurate biomarker of IGF-1 function in obesity and hypertension.Methods: Using ELISA and HPLCms methodologies, we analysed plasma concentration of IGF-1, cGP and IGFBP-3 in 4...

Whole genome sequencing (WGS) has the potential to identify nearly all forms of genetic variation. In complex disorders with multiple manifestations WGS can establish a definitive diagnosis that may change clinical management (Stavropoulos et al. 2016 Genomic Med). Here, we report on the utility of WGS in establishing the correct diagnosis in a family with hyperuricaemia. Hyperuricaemia may occur as: part of a syndromic disorder (e.g. Lowe syndrome, renal col...

Bartter’s syndrome (BS) and Gitelman’s syndrome (GS) are renal tubular disorders affecting reabsorption of sodium, potassium and chloride. Common clinical features include muscle cramps and weakness, hypokalaemia, hypochloraemic metabolic alkalosis and elevated plasma aldosterone concentrations. Urinary calcium excretion and plasma magnesium concentrations may be differentiating features, such that hypomagnesaemia and hypocalciuria are typical of GS, and hypercalciur...

Context: Differentiating adrenocortical adenoma (ACA) from adrenocortical carcinoma (ACC) represents a continuous challenge in patients with (often incidentally discovered) adrenal masses, with unfavorable sensitivities and specificities provided by tumor size, imaging and even histology. We have previously developed urine steroid metabolomics as a tool for the detection of adrenal malignancy employing gas chromatography mass spectrometry (GC-MS) for the detection of 32 distin...

Background: Adrenal vein sampling (AVS) remains the gold-standard for distinguishing unilateral and bilateral disease in primary aldosteronism (PA). However, it is invasive, technically demanding, and may yield inconclusive or equivocal results. 11C-Metomidate PET-CT (11C-MTO-PET-CT) is a non-invasive alternative to AVS for localising unilateral aldosterone-producing adenomas (APAs).Methods/patients: We report a retrospective analys...