Endocrine Abstracts

Vitamin D deficiency during pregnancy has been linked to adverse pregnancy outcomes such as pre-eclampsia (PET), but continues to be defined by serum measurement of a single metabolite, 25-hydroxyvitamin (25(OH)D). To identify broader changes in vitamin D metabolism during normal and PET pregnancies we developed a mathematical model using a reduced reaction network for vitamin D metabolism that allows for complete parametrisation by multiple vitamin ...

Background: Alemtuzumab (ALTZ) is a humanised monoclonal anti-CD52 antibody used as effective treatment for relapsing/remitting multiple sclerosis (MS), causing panlymphopenia with subsequent lymphocyte repopulation. Unfortunately, around 40% of patients develop secondary humoral autoimmunity, mainly affecting the thyroid gland. Anti-thyrotropin-receptor (TSHR) autoantibodies (TRAb) can stimulate (TSAb), block (TBAb) or not affect (‘neutral’) TSHR function, with TSAb...

Case history: A previously well 45-year-old lady presented with a 3-year history of hypertension initially diagnosed at a routine health check. Her blood pressure (BP) was 170-180/90-100 mmHg.Investigations: Showed hypokalaemia (K+= 3 mmol/l; NR 3.5-5.3 mmol/l), raised aldosterone (976pmol/l; NR 100-500pmol/l) and supressed renin activity (<0.2nmol/l/h), meeting criteria for diagnosing primary aldosteronism (PA). CT adrenals showed a 2.5 cm left adre...

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...