Endocrine Abstracts

Introduction: Gas chromatography mass spectrometry (GC-MS) is the gold standard method for urinary steroid profiling. However, GC-MS requires chemical derivatisation, long run times, is labour intensive, expensive, and unsuitable for rapid multi-sample analysis, limiting its use in routine clinical practice. GC-MS urinary steroid metabolomics, the combination of steroid profiling and machine learning (Generalized Matrix Learning Vector Quantization) was shown to have superior ...

Introduction: Here we present our experience of managing patients with orbital well-differentiated neuroendocrine tumour (NET) metastases.Methods: Six patients were identified from the hospital NET database: four male; two female.Results: Median age at diagnosis of primary NET: 69.5 years (range: 40-74 years). Three patients were alive at time of data capture. Of those who passed away: mean survival from diagnosis of primary NET = ...

Objective: Non-alcoholic fatty liver disease (NAFLD) is the hepatic manifestation of metabolic syndrome. Steroid hormones and bile acids are potent regulators of hepatic carbohydrate and lipid metabolism. Steroid 5β-reductase (AKR1D1) is highly expressed in human liver where it inactivates steroid hormones and catalyzes a fundamental step in bile acid synthesis.Methods: Human liver biopsies were obtained from 34 obese patients and AKR1D1 mRNA expres...

Introduction: Non-alcoholic fatty liver disease (NAFLD) is associated with dysregulated glucocorticoid metabolism. Advanced stages of NAFLD are associated with adverse outcome and current strategies to stage disease severity are still reliant upon liver biopsy. We have previously described changes to enzymatic pathways that regulate cortisol bioavailability; 11β-hydroxysteroid dehydrogenase type-1 (11β-HSD1) regenerates cortisol from inactive cortisone, and A-ring re...

Introduction: The regular diagnostic workup for primary aldosteronism (PA) can be very demanding and involves multiple invasive as well as time and cost intensive diagnostic tests. Here we have explored the value of urinary steroid metabolome analysis in the diagnosis and differential diagnosis of PA. Previously, urinary 3α,5β-tetrahydroaldosterone (THAldo) has been suggested as a reliable screening test for PA and serum 18-oxocortisol and 18-hydroxycortisol have bee...

Background and aims: 5α reductase 1 and 2 (SRD5A1 (expressed in liver and adipose), SRD5A2 (expressed in liver) inactivate cortisol to 5α-dihydrocortisol in addition to their role in the generation of dihydrotestosterone and therefore regulate the tissue availability of cortisol. Dutasteride (dual SRD5A1 and SRD5A2 inhibitor) and Finasteride (selective SRD5A2 inhibitor) are commonly prescribed, but their potential metabolic effects have only recently been identified....

Introduction: Adrenocortical carcinoma (ACC) is an aggressive malignancy with a high rate of recurrence. Regular post-operative follow-up imaging is necessary, but associated with high radiation exposure and frequent diagnostic ambiguity. Urine steroid metabolomics has recently been introduced as a novel diagnostic tool for the detection of adrenocortical malignancy in patients with adrenal incidentalomas. Here we present the first clinical study assessing the performance of t...

Adrenal tumours have an incidence of 2–3% in the general population. Adrenocortical carcinoma (ACC), a highly malignant tumor with a poor prognosis, has an annual incidence of two per million but representation in pre-selected patient cohorts with adrenal masses undergoing surgery is up to 12%. Differentiating adrenocortical adenomas (ACA) from ACC represents a continuous challenge, with unfavourable sensitivities and specificities provided by tumour size, imaging criteri...

Introduction: 5-alpha reductase deficiency (5aRD) is a rare cause of 46XY DSD, that affects sex development before birth and during puberty. The incidence is unknown; affected individuals have been described from all around the world, particularly in small communities or where consanguinity is common.Methods: A 20-year retrospective review of presenting features, biochemical data and genetic analysis of all patients presenting to a single multidisciplina...

Purpose: Neuroendocrine neoplasms are known to have heterogeneous biological behavior. G3 neuroendocrine tumours (NET G3) are characterized by well-differentiated morphology and Ki67>20%. The prognosis of this disease is understood to be intermediate between NET G2 and neuroendocrine carcinoma (NEC). Clinical management of NET G3 is challenging due to limited data to inform treatment strategies.Methods: We describe clinical characteristics, treatment, an...