Endocrine Abstracts

Higher short-term exercise-associated reproductive, psychological and bone health-related outcomes have been reported in women than men, although the reasons for this are poorly understood. The first, all-female transantarctic expedition provided a unique opportunity to perform an observational study examining concurrent effects of extreme exercise on pertinent hormonal axes to reproductive dysfunction and associated pathology. Body composition was measured by dual-energy xray...

Introduction: British Army recruits suffer from musculoskeletal injuries (MSI) during initial training. Up to 10% suffer skeletal stress fracture (SFx) resulting in lost training days and medical attrition. There is evidence to suggest that vitamin D deficiency is prevalent in the army. Our aim was to determine vitamin D metabolites (VDM) in recruits upon starting training, and health outcomes after a 14-week training programme.Methods: ...

Introduction: There has been a substantial increase in our knowledge of the genetic architecture of thyroid function, with numerous variants associated with TSH and/or FT4 levels. However, our knowledge of the genetic variants associated with thyroid disease is more limited.Methods: Data was obtained from the Neale laboratory† which provided a case-control study to identify single nucleotide polymorphisms associated with a diagnosis of hypothyroidi...

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...

Mutations affecting the mitochondrial enzyme succinate dehydrogenase (SDH) are associated with a wide spectrum of tumours. SDH deficient tumours have a unique tumour metabolome due to the interruption of the citric acid cycle and accumulation of the ‘oncometabolite’ succinate, which drives tumourigenesis. Investigating the tumour metabolome of SDH deficient tumours has potential translational application. MRI spectroscopy (1H-MRS) was used for in vivo<...

Adrenocortical carcinoma (ACC) is a rare tumor with poor prognosis and the only approved drug for advanced disease is mitotane. The cytochromes P450 (CYP) 2W1 and 2B6 are proposed predicting markers of sensitivity to mitotane treatment. Aim of the study was to evaluate the relationship between CYP2W1 and/or CYP2B6 polymorphisms and response to mitotane in ACC.Methods: We performed a multicentric retrospective study including 182 ACC patients (F/M=121/61)...