Searchable abstracts of presentations at key conferences in endocrinology

ea0094ret1.2 | Section | SFEBES2023

Current understanding of RET genotype-phenotype correlation

Izatt Louise

The ret proto-oncogene (RET) encodes a transmembrane tyrosine kinase receptor of growth factors belonging to the glial-derived neurotrophic family, essential for the normal development of the kidneys, ureters, peripheral and enteric nervous system. Pathogenic variants in the RET gene result in multiple different phenotypes, which can range from isolated pathologies to multi-system disease, as a result of both loss and gain of RET function. Missense gain of function pathogenic ...

ea0081p269 | Adrenal and Cardiovascular Endocrinology | ECE2022

Evaluation of a tertiary centre specialist adrenal MDT: The first 900 patients

Child Louisa , Sagar Rebecca , Fraser Sheila , Collins Emma , Frood Russell , Scarsbrook Andrew , Abbas Afroze

Background: Adrenal incidentalomas are common amongst the general population, incidence increases with age. Radiological and biochemical assessment of all lesions >1 cm is standard practice to determine appropriate future management, as per current European guidelines. We report the experiences of a recently formalised adrenal multi-disciplinary pathway in a large UK teaching hospital, where all adrenal incidentalomas are referred and systematically assessed.<p cl...

ea0050oc5.5 | Reproduction and Neuroendocrinology | SFEBES2017

Vitamin-D and fetomaternal immunity: next generation RNA sequence analysis reveals unique effects upon uterine natural killer cells

Tamblyn Jennifer , Jeffery Louisa , Susarla Radhika , Knoblich Konstantin , Fletcher Anne , Kilby Mark , Hewison Martin

Vitamin D deficiency is prevalent in pregnant women and associated with adverse pregnancy outcomes, including pre-eclampsia. Active vitamin-D (1,25(OH)2D3) exerts important non-classical immune-regulatory effects, and the maternal placenta (decidua) appears a key target. Uterine natural killer cells (uNKs) are the most prominent decidual immune cell during early pregnancy. Given their critical role in fetal implantation and placentation, we hypothesised uNKs are a local source...

ea0050p267 | Neuroendocrinology and Pituitary | SFEBES2017

11C-methionine PET can aid localisation of the source of ACTH-dependent Cushing’s syndrome in patients with equivocal or negative conventional imaging.

Tobin Jake , White Louisa , Koulouri Olympia , Bashari Waiel , Powlson Andrew , Gillett Daniel , Cheow Heok , Gurnell Mark

Background: Cross-sectional imaging (e.g. CT/MRI) can not always reliably identify the site of ACTH secretion in Cushing’s disease (CD) or the ectopic ACTH syndrome (EAS). We report our experience of localising the source of ACTH-dependent Cushing’s syndrome, using functional imaging with 11C-methionine positron emission tomography (Met-PET).Methods: Forty consecutive patients with: (i) de novo ...

ea0050p279 | Neuroendocrinology and Pituitary | SFEBES2017

Bilateral Inferior Petrosal Sinus Sampling (BIPSS) reliably differentiates pituitary from ectopic Cushing’s syndrome, but does not predict pituitary tumour location, especially when lateralizing to the right

White Louisa , Tobin Jake , Koulouri Olympia , Powlson Andrew , Bashari Waiel , Koo Brendan , Gurnell Mark

Background: BIPSS is considered the gold-standard procedure for differentiating autonomous pituitary [Cushing’s Disease (CD)] and ectopic ACTH syndrome (EAS) sources of ACTH hypersecretion. A basal (i.e. unstimulated) pituitary:peripheral ACTH ratio >2, and/or a CRH stimulated pituitary:peripheral ACTH ratio >3, have been proposed as indicative of CD, with a range of sensitivities and specificities cited in the literature. Ad...

ea0050oc5.5 | Reproduction and Neuroendocrinology | SFEBES2017

Vitamin-D and fetomaternal immunity: next generation RNA sequence analysis reveals unique effects upon uterine natural killer cells

Tamblyn Jennifer , Jeffery Louisa , Susarla Radhika , Knoblich Konstantin , Fletcher Anne , Kilby Mark , Hewison Martin

Vitamin D deficiency is prevalent in pregnant women and associated with adverse pregnancy outcomes, including pre-eclampsia. Active vitamin-D (1,25(OH)2D3) exerts important non-classical immune-regulatory effects, and the maternal placenta (decidua) appears a key target. Uterine natural killer cells (uNKs) are the most prominent decidual immune cell during early pregnancy. Given their critical role in fetal implantation and placentation, we hypothesised uNKs are a local source...

ea0050p267 | Neuroendocrinology and Pituitary | SFEBES2017

11C-methionine PET can aid localisation of the source of ACTH-dependent Cushing’s syndrome in patients with equivocal or negative conventional imaging.

Tobin Jake , White Louisa , Koulouri Olympia , Bashari Waiel , Powlson Andrew , Gillett Daniel , Cheow Heok , Gurnell Mark

Background: Cross-sectional imaging (e.g. CT/MRI) can not always reliably identify the site of ACTH secretion in Cushing’s disease (CD) or the ectopic ACTH syndrome (EAS). We report our experience of localising the source of ACTH-dependent Cushing’s syndrome, using functional imaging with 11C-methionine positron emission tomography (Met-PET).Methods: Forty consecutive patients with: (i) de novo ...

ea0050p279 | Neuroendocrinology and Pituitary | SFEBES2017

Bilateral Inferior Petrosal Sinus Sampling (BIPSS) reliably differentiates pituitary from ectopic Cushing’s syndrome, but does not predict pituitary tumour location, especially when lateralizing to the right

White Louisa , Tobin Jake , Koulouri Olympia , Powlson Andrew , Bashari Waiel , Koo Brendan , Gurnell Mark

Background: BIPSS is considered the gold-standard procedure for differentiating autonomous pituitary [Cushing’s Disease (CD)] and ectopic ACTH syndrome (EAS) sources of ACTH hypersecretion. A basal (i.e. unstimulated) pituitary:peripheral ACTH ratio >2, and/or a CRH stimulated pituitary:peripheral ACTH ratio >3, have been proposed as indicative of CD, with a range of sensitivities and specificities cited in the literature. Ad...

ea0038p363 | Reproduction | SFEBES2015

Vitamin D and foetomaternal immunity: effects on uterine natural killer cells

Tamblyn Jennifer , Jeffery Louisa , Susarla Radhika , Moss Paul , Hewison Martin , Kilby Mark

Vitamin D deficiency is prevalent in pregnant women. Active vitamin D (1,25(OH)2D3) exerts important non-classical immune-regulatory effects, and the maternal placenta (decidua) is a potential target for this. CD56+ -uterine natural killer (uNK) cells are the most prominent cell type in the decidua during early pregnancy. Given their critical role in foetal implantation and placentation, we hypothesised that uNK cells are a pivotal immunomodula...

ea0038p395 | Steroids | SFEBES2015

Vitamin D2 vs vitamin D3: effects of total and free 25-hydroxyvitamin D on immune cells in vivo

Hernandez Ivan , Chun Rene , Larner Dean , Jemkinson Carl , Jeffery Louisa , Adams John S , Hewison Martin

Vitamin D metabolites such as 25-hydroxyvitamin D (25D) circulate bound primarily to vitamin D binding protein (DBP). However, for most extra-renal tissues 25D uptake is independent of DBP, even though the ‘free’ 25D fraction is very small. DBP has a lower binding affinity for 25D2 compared to 25D3. We hypothesized that this would increase serum free 25D2, with possible variations in vitamin D function. Mice were placed on diets containing equal amounts (1000 IU/kg) ...