Searchable abstracts of presentations at key conferences in endocrinology

ea0090p274 | Adrenal and Cardiovascular Endocrinology | ECE2023

Response to Crinecerfont Treatment in Adults with Classic Congenital Adrenal Hyperplasia Is Correlated with Elevated Baseline Hormone Levels But Not Glucocorticoid Dose

Auchus Richard , Sarafoglou Kyriakie , Y. Fechner Patricia , Vogiatzi Maria , Giri Nagdeep , Roberts Eiry , Sturgeon Julia , Chan Jean L. , Farber Robert

Introduction: Corticotropin-releasing factor type 1 (CRF1) receptor antagonists, such as crinecerfont, have recently been investigated for the treatment of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD), a rare autosomal disease characterized by cortisol deficiency, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a study of adults with 21OHD, treatment with crinecerfont for 14 days led to median ...

ea0065p193 | Metabolism and Obesity | SFEBES2019

Modulation of vagal afferent signalling by the amino acid metabolite sensor GPR35

Roberts Anna , Cheng Sijing , Norton Mariana , Mohamed Omer , Cork Simon C , Salem Victoria , Hanyaloglu Aylin , Murphy Kevin

High dietary protein intake can suppress appetite, drive weight loss and improve glucose homeostasis. Understanding the mechanisms by which ingested protein is sensed may reveal new therapeutic targets for metabolic disease. G-protein coupled receptor 35 (GPR35) is activated by compounds including Kynurenic acid (Kyna), a product of amino acid metabolism. GPR35 is expressed in the intestines, most highly in the colon, and has recently been identified in the afferent vagus nerv...

ea0044p208 | Reproduction | SFEBES2016

Anti-Müllerian Hormone (AMH) and Antral Follicle Count (AFC) are predictive markers in the assessment of patients with menstrual disturbance

Abbara Ali , Clarke Sophie , Roberts Rachel , Vimalesvaran Sunitha , Comninos Alexander , Christopoulos Georgios , Islam Rumana , Franks Steven , Trew Geoffrey , Dhillo Waljit

Background: Anti-Müllerian Hormone (AMH) and Antral Follicle Count (AFC) are both principally used as markers of ovarian reserve and available in all UK hospitals. The utility of these markers in the binary diagnosis of Polycystic Ovarian Syndrome (PCOS) by published criteria, such as Rotterdam, has been previously reported. We evaluated their utility in the evaluation of oligo/amenorrhoea in healthy young non-obese women.Methods: Women with both ov...

ea0025p167 | Diabetes, metabolism and cardiovascular | SFEBES2011

Defining multipotent progenitors in the human fetal pancreas by expression and ChIP-seq

Jennings Rachel , Berry Andrew , Rodriguez Santiago , Pasquali Lorenzo , Moran Ignasi , Roberts Neil , Hanley Karen Piper , Ferrer Jorge , Hanley Neil

Understanding how fate choices are made by multipotent progenitors during pancreas development is valuable information in the quest for regenerative medicine and cell therapy to treat diabetes mellitus. Pancreatic differentiation is well defined and understood in rodents however, human data are comparably scarce. Specifically, when human pancreatic progenitors are multipotent is unknown as are the epigenetic changes that these cells undergo during their differentiation to beta...

ea0013p216 | AMEND Young Investigator's Award | SFEBES2007

Endoscopic pituitary surgery for acromegaly – Benefits of a specialist service

Rao-Balakrishna Prasanna , Shalet Shashana , Lee Catherine , Roberts Margaret , Gibson Christine , Wu Frederick , Davis JRE , Gnanalingham Kanna , Kearney Tara

Acromegaly is associated with increased morbidity and mortality. Surgical excision of the adenoma remains the best option to attain a cure. The results of surgery in the region were unsatisfactory compared to other European centres as was amply borne out in a 1998 review. As the lack of a dedicated pituitary surgical team was considered contributory, one was developed offering Endoscopic, transsphenoidal, pituitary surgery and their results audited.Sixte...

ea0013p217 | AMEND Young Investigator's Award | SFEBES2007

Value of early post-operative growth hormone assessment in acromegaly surgery

Rao-Balakrishna Prasanna , Lee Catherine , Roberts Margaret , Shalet Shashana , Gibson Christine , Wu Frederick , Davis JRE , Gnanalingham Kanna , Kearney Tara

Surgery is the treatment of choice for GH secreting tumours. Recent papers suggest, early re-exploration of persistently active tumours may be beneficial. Endocrine assessment, to confirm cure, in the immediate post-operative period is difficult. We aimed to ascertain which test of GH excess performed post-operatively is a reliable predictor of longer term cureMethods: 16 consecutive patients (8 males and 8 females: mean age 46.8±13 years) with acti...

ea0013p219 | AMEND Young Investigator's Award | SFEBES2007

Testicular teratoma, testicular seminoma and papillary thyroid carcinoma occurring in a single individual: a report of two unrelated cases

Syed Akheel A , Jones Nigel AG , Roberts J Trevor , Mallick Ujjal K , Douglas Fiona , Perros Petros , Quinton Richard

We describe two unrelated men with a previously unreported combination of tumours. The first patient developed a right-sided testicular teratoma at the age of 25 years treated with orchidectomy. He went on to develop a left-sided seminoma at the age of 35 years, treated with orchidectomy followed by prophylactic para-aortic radiotherapy (30 Gy in 15 fractions). At the age of 48 years he developed a nodule in the left lobe of thyroid (AC4/Thy4 on FNA) treated with hemithyroidec...

ea0005p79 | Diabetes, Metabolism and Cardiovascular | BES2003

Identification of the gene causing familial juvenile hyperuricaemic (Gouty) nephropathy

Stacey J , Turner J , Harding B , Kotanko P , Lhotta K , Puig J , Roberts I , Torres R , Thakker R

Gout, which is commonly associated with hyperuricaemia, affects 0.2% of the population. Hyperuricaemia has a heterogeneous aetiology that may be due to either over production and/or reduced renal clearance, of urate. In order to identify the mechanisms underlying reduced excretion of urate, we undertook positional cloning studies of familial juvenile hyperuricaemic nephropathy (FJHN), which is an autosomal dominant disorder characterised by hyperuricaemia, a low fractional ren...

ea0094p61 | Metabolism, Obesity and Diabetes | SFEBES2023

Neurotensin improves glucose tolerance via NtsR1-expressing enteropancreatic neurons

Meyer Leah , Roberts Anna , Liu Jieruo , Norton Mariana , Dunsterville Cecilia , Tao Yuxuan , Salem Victoria , G Murphy Kevin

Neurotensin is expressed throughout the gastrointestinal tract and acts as a gut hormone. Recent work has established neurotensin modulates lipid absorption at the gastrointestinal lumen, but its role in the control of glucose homeostasis remains unclear. Neurotensin acts via three receptors, including the NtsR1 and is endogenously released following the ingestion of olive oil. Previous work in our group has identified that neurotensin acutely improves glucose tolerance in bot...

ea0099oc2.1 | Oral Communications 2: Calcium and Bone | Part I | ECE2024

Encaleret (CLTX-305) sustained normalization of mineral homeostasis in patients with autosomal dominant hypocalcemia type 1 over 18 months in a phase 2 study [NCT04581629]

Gafni Rachel , Hartley Iris , Roszko Kelly , Pozo Karen , Nemeth Edward , Mathew Arun , Roberts Mary Scott , Adler Scott , Collins Michael

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function calcium-sensing receptor gene (CASR ) variants, is characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hypercalciuria, hyperphosphatemia and hypomagnesemia. Conventional therapy (calcium and active vitamin D) can exacerbate hypercalciuria, which may result in renal complications. Calcilytics that act as negative allosteric modulators of the calcium-sensing receptor (CaSR), like ...