Endocrine Abstracts

Background: Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder, with an estimated prevalence of 1 to 4 per 1000 in the general population. It is well established that vitamin D deficiency co-exists with PHPT. However, there are very few studies that looked at the relationship of the severity of vitamin D deficiency to the clinical and biochemical presentations of PHPT.Aim: This study evaluated the prevalence of vitamin D defic...

Aim: To evaluate the recovery rate, characteristics and factors that might help predict the HPA axis recovery of patients with glomerulonephritis (GN) and GC-induced AI.Study Design: A retrospective study involving all GN patients referred from January 2014-December 2016 with a confirmed diagnosis of GC-induced AI with a planned weaning from conventional Prednisolone (Pred) immunosuppression and switch onto Hydrocortisone (HC). Data collected up to Novem...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s perspective. We have em...

Dysregulation of the enzymes that control local tissue steroid metabolism has been implicated in the pathogenesis of obesity and insulin resistant states, however longitudinal changes in glucocorticoid metabolism over time have not been investigated. This study was designed to evaluate the role of pre-receptor glucocorticoid metabolism in the development of insulin resistance and obesity. 24 h urinary glucocorticoid and mineralocorticoid metabolites were measured by gas chroma...

Background: About a half of all children with a clinical diagnosis of Silver-Russell syndrome (SRS) have a detectable molecular genetic abnormality (maternal uniparental disomy of chromosome 7 or hypomethylation of H19). The selection of children for molecular genetic testing can be difficult for non-specialists because of the broad phenotypic spectrum of SRS and the tendency of the facial features to mitigate during late childhood. Several clinical scoring systems for SRS hav...

Adrenal tumors have an incidence of 2–3% in the general population and the work-up of incidentally discovered adrenal masses represents a major burden to the health system. Differentiating adrenocortical adenoma (ACA) from adrenocortical carcinoma (ACC) represents a continuous challenge, with unfavorable sensitivities and specificities provided by tumor size, imaging and even histology. Here, we aimed to develop a reliable screening tool for the detection of adrenal malig...

Polycystic ovary syndrome (PCOS) affects 5–10% of the female population. It is characterised by androgen excess and anovulatory infertility; several studies have reported an increased incidence of the metabolic syndrome and enhanced 5α-reductase activity in PCOS. However, the contribution of obesity to these findings has yet to be clarified. Here we have analysed metabolic status and urinary steroid metabolite excretion in 114 patients with PCOS (median age 30 (range...

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...