Searchable abstracts of presentations at key conferences in endocrinology

ea0065p84 | Bone and calcium | SFEBES2019

A retrospective cohort study evaluating the relationship between the severity of vitamin D deficiency and the clinical and biochemical presentations of patients with primary hyperparathyroidism (PHPT)

Criseno Sherwin , Virk Jasmine , Nightingale Peter , Geberhiwot Tarekegn , Gittoes Neil

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...

ea0059oc4.5 | Clinical highlights | SFEBES2018

Hypothalamic-pituitary adrenal axis recovery rate of patients with glucocorticoid-induced adrenal insufficiency (GC-induced AI)

Feliciano Chona , Gleeson Helena , Tomlinson Jeremy , Nightingale Peter , Willets Matthew

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...

ea0078p33 | Gonadal, DSD and Reproduction | BSPED2021

Breast Satisfaction in adult women with Turner Syndrome – an international survey employing the BREAST-Q questionnaire

Idkowiak Jan , Smyth Arlene , Mundy Lily , Thorby-Lister Amy , Tsangaris Elena , Klaassen Anne , Nightingale Peter , Gleeson Helena , Hogler Wolfgang

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...

ea0034p260 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2014

Longitudinal changes in glucocorticoid metabolism predict the development of metabolic phenotype

Crowley Rachel , Hughes Beverly , Gray Joanna , McCarthy Theresa , Hughes Susan , Shackleton Cedric , Crabtree Nicola , Nightingale Peter , Stewart Paul , Tomlinson Jeremy

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...

ea0033oc2.6 | Oral Communications 2 | BSPED2013

Review of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

Dias Renuka , Nightingale Peter , Hardy Carol , Kirby Gail , Tee Louise , Price Sue , MacDonald Fiona , Barrett Timothy , Maher Eamonn

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...

ea0021oc3.3 | Young Endocrinologists prize session | SFEBES2009

Development of urinary steroid profiling as a high-throughput screening tool for the detection of malignancy in patients with adrenal tumours

Taylor Angela , Biehl Michael , Hughes Beverly , Stiekema Han , Schneider Petra , Smith David , Nightingale Peter , Shackleton Cedric , Stewart Paul , Arlt Wiebke

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...

ea0015oc16 | Reproduction | SFEBES2008

Enhanced hypothalamic–pituitary–adrenal axis activation, 5α-reductase activity and insulin resistance distinguishes polycystic ovary syndrome from simple obesity

Vassiliadi Dimitra A , Tomlinson Jeremy W , Hughes Beverly A , Gay Christopher , Sira Shaleen , Nightingale Peter , Shackleton Cedric HL , Stewart Paul M , Arlt Wiebke

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...

ea0039oc7.1 | Oral Communications 7 | BSPED2015

Wolfram syndrome: natural history and genotype-phenotype correlation based on EURO-WABB registry show gender differences in disease severity

Dias Renuka , Richens Caitlin , Astuti Dewi , Nightingale Peter , Ayme Segolene , Lopez de Heredia Miguel , Maffei Pietro , McCafferty Susan , Mlynarski Wojciech , Nunes Virginia , Parkinson Kay , Paquis-Flucklinge Veronique , Rohayem Julia , Sinnott Richard , Tillmann Vallo , Tranebjaerg Lisbeth , Barrett Timothy

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...