Searchable abstracts of presentations at key conferences in endocrinology

ea0077oc3.6 | Metabolism, Obesity and Diabetes | SFEBES2021

Stimulation of motilin secretion by bile, free fatty acids and acidification in human duodenal organoids

Miedzybrodzka Emily L , Foreman Rachel E , Lu Van B , George Amy L , Smith Christopher A , Larraufie Pierre , Kay Richard G , Goldspink Deborah A , Reimann Frank , Gribble Fiona M

Objective: Motilin is a proximal small intestinal hormone with roles in gastrointestinal motility, gallbladder emptying and hunger initiation. The molecular mechanisms underlying motilin release in response to fats, bile and duodenal acidification are poorly understood, in part due a lack of suitable cellular and rodent models. We therefore generated a novel human intestinal organoid model with fluorescently labelled motilin-expressing M-cells, which we used to establish the k...

ea0011p830 | Thyroid | ECE2006

Increase of L-thyroxine requirement during pregnancy

Russo L , Tonacchera M , Gianetti E , Perri A , Vitti P , Pinchera A

In pregnant women with thyroid diseases an increased amount of LT4 may be required for the correction of hypothyroidism or treatment of nodular goiter. Aim of this study was to assess the amount of the variations of LT4 requirement in pregnant women with thyroid diseases. To address this issue, we retrospectively evaluated a cohort of 107 women treated with LT4 divided in two groups: 42 euthyroid (E) (affected by nodular goiter (NG) treated with LT4 suppressive therapy) and 65...

ea0086p51 | Metabolism, Obesity and Diabetes | SFEBES2022

Regulation of 5-HT secretion from human duodenal enterochromaffin cells

Miedzybrodzka Emily , Alcaino Constanza , Guccio Nunzio , Smith Christopher , Lu Van , Bany Bakar Rula , Gribble Fiona , Reimann Frank

The majority of the body’s 5-HT (serotonin) is produced from enterochromaffin cells (ECs) of the intestinal epithelium. 5-HT has important roles within the gastrointestinal tract in the modulation of motility, secretion and inflammation, while also signalling satiety and discomfort to the central nervous system. The factors regulating release of 5-HT from human small intestinal ECs have not been clearly elucidated: although circulating 5-HT levels typically increase after...

ea0074oc1 | Oral Communications | SFENCC2021

A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology

Cottrell Emily , Chatterjee Sumana , Hwa Vivian , Storr Helen L.

Section 1: Case history: A 10-year-old girl presented with significant postnatal growth failure. Her birth weight was normal (–0.15SDS) but poor growth was observed from a few months of age. She had no other symptoms. On examination, height was –3.4SDS and head circumference –1.6SDS. She had no dysmorphic features and normal development. Section 2: Investigations: Baseline serum analyses were unremarkable. Karyotype was normal (46XX). Bone age was delayed by 2.5...

ea0026p30 | Adrenal cortex | ECE2011

Is plasma mitotane level >30 mg/l a serious adverse event in patients with adrenocortical carcinoma (ACC)?: a retrospective analysis of the French COMETE network

Mauclere-Denost S M D , Tabarin A T , Drui D D , Chaillous L C , Salenave S S , Leboulleux S L , Chabre O C , Do-Cao C D C , Dubourg H D , Cuvelier M L C , Young J Y , Baudin E B

Background: Mitotane antitumor efficacy is related to plasma levels. Objective responses have been associated with mitotane plasma levels >14 mg/l. However, high plasma levels >20 or >30 mg/l are at higher risk of toxicity, especially neurotoxicity. National-based survey is lacking to evaluate the frequency and severity of high mitotane plasma levels. Our aim was to retrospectively describe serious adverse events (SAE).Methods: Mitotane plasm...

ea0009p55 | Growth and development | BES2005

Constitutional delay of growth and puberty (CDGP)is associated with the GPR54 gene but not with Leptin (L), Leptin Receptor (LR) and Cocaine and Amphetamin Regulated Transcript (CART) genes

Banerjee I , Trueman J , Patel L , Hall C , Price D , Hirschhorn J , Palmert M , Read A , Clayton P

CDGP is a common growth disorder, often dominantly inherited. Genetic association is thus very likely. There are many possible candidates but none are yet linked to CDGP. We assessed the possible contribution of L, LR genes (mutations in each cause very delayed or absent puberty), CART (mediates the effect of L on GnRH pulse generation), and GPR54 (a hypothalamic G-protein coupled receptor, which is mutated in familial hypogonadotrophic hypogonadism) genes.<p class="abstex...

ea0034p199 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2014

The effect of L-cysteine on appetite in humans

Amin Anjali , Agahi Amy , Martin Niamh , Ghatei Mohamed , Bloom Steve , Murphy Kevin

High protein diets suppress appetite and facilitate weight loss, but are difficult to adhere to. Understanding the mechanisms by which protein suppresses appetite may establish targets for more acceptable interventions to treat or prevent obesity. Of particular interest is the concept of functional foods or novel products, which aim to potentiate satiety.Receptor systems that respond to amino acids have been identified. However, the specific mechanisms r...

ea0048cb5 | Additional Cases | SFEEU2017

Complex combinations of late effects

Goodchild Emily , Drake William

Case history: This 32 year old lady developed anterior and posterior pituitary failure following chemotherapy, radiotherapy and bone marrow transplant for acute lymphoblastic leukaeamia in childhood and subsequent CNS recurrence. During her teens, she required GH replacement with which she was poorly compliant. She had a mastectomy and currently takes hormonal treatment for oestrogen receptor positive T2N1M1 breast cancer, which is possibly a consequence of her total body irra...

ea0045oc1.2 | Oral Communications 1- CME | BSPED2016

Lysinuric protein intolerance: A cause of secondary IGF-I deficiency with raised growth hormone levels and osteoporosis

Cottrell Emily , Mushtaq Talat

A 7.7 year old girl born to consanguineous was assessed for poor growth; height −3.2 SDS, weight −2.7 SDS, BMI −0.8 SDS. Examination revealed chubby cheeks, abdominal obesity, relatively thin limbs and a suggestion of mid-face hypoplasia. There was no scoliosis or other dysmorphic features.Investigations found a 46XX karyotype and negative coeliac screen. Pituitary function testing revealed high basal Growth Hormone (GH) of 6.5 ug/l, ri...

ea0044ep25 | (1) | SFEBES2016

Association of neurofibromatosis type 1 with primary hyperparathyroidism: report of a case

Austin Emily , Bates Andrew

Introduction: Neurofibromatosis Type 1 (NF1) is an autosomal dominant inherited disorder, which increases the risk of developing both benign and malignant tumours. A Swedish study conducted by Zöller et al in 1997, suggested that up to 25% of these tumours are neuroendocrine in origin, of which phaeochromocytomas were the commonest with a prevalence of 0.1–6%. The association between NF1 and primary hyperparathyroidism is described in the literature but clinically ra...