Searchable abstracts of presentations at key conferences in endocrinology

ea0090s2.2 | Autoimmune diseases associated with Addison's disease | ECE2023

Immune contribution to ACC pathogenesis

Val Pierre

The immune microenvironment plays a central but ambivalent role in tumourigenesis. During initial phases of neoplasia, both innate and adaptive immune cells recognize and destroy tumour cells. However, during the process of immunoediting, tumour cells progressively reshape the microenvironment and use immune cells to favour neoangiogenesis, tumour growth and metastasis. Until recently, the role of immune response in the pathogenesis of ACC had remained elusive. Analysis of the...

ea0025s5.4 | The novel role of primary cilia in endocrine disease and obesity | SFEBES2011

The molecular pathophysiology of the human obesity disorder, Bardet Biedl syndrome (BBS)

Sheffield Val

Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, retinopathy, cognitive abnormalities, and polydactyly and other congenital anomalies. Patients also have an increased incidence of hypertension and diabetes. Mutations in at least 14 genes have been reported to independently cause BBS. In order to better understand the pathophysiology of BBS, we have generated BBS mouse models and have investigated the interaction of the prote...

ea0056s17.1 | Recent advances in Primary Adrenal Macronodular Hyperplasia | ECE2018

Adrenal development and benign tumor formation

VAL Pierre

The adrenal cortex arises from the adrenogonadal primordium, which is also involved in the formation of the gonadal anlagen and is characterized by expression of the nuclear receptor Sf1. After individualisation, the adrenal primordium undergoes a series of developmental events that culminate with establishment of functional zonation, characterised by differentiation of zona glomerulosa and zona fasciculata. In the past 7 years, we have developed a number of mouse models recap...

ea0014p44 | (1) | ECE2007

Low dose cyclosporin and methotrexate administration induces remission of Type 1 diabetes mellitus

Sobel Douglas , Abbassi Val , Henzke Annette

Although, high doses of cyclosporine (cyclo)has been demonstrated to inhibit the development of type 1diabetes mellitus (T1D), its usefulness was limited by its toxicity. Since methotrexate (Mtx) and cyclo have been shown to synergistically act in other disease processes, we determined if low dose cyclo and Mtx therapy could inhibit the development of diabetes and reduce or eliminate the need for insulin therapy in a pilot study.Methods: Insulin dose and...

ea0083ap1 | Adrenal and Cardiovascular | EYES2022

Prader-Willi syndrome proteins NDN and MAGEL2 are implicated in HPA axis regulation

D Dufour , C Menuet , F Muscatelli , P Val , A Martinez

Background: The adrenal gland produces corticosteroids essential for hydromineral and metabolic homeostasis. It is organised, in mice, in two concentric layers. The zona glomerulosa (zG) and fasciculate (zF), renewed from progenitors located in the capsular periphery. Centripetal renewal and maintenance of cortical zonation are dependant of a balance between WNT/β-catenin and ACTH/PKA signalling pathways. They provide recruitment and consecutive differentiation of progeni...

ea0090p277 | Adrenal and Cardiovascular Endocrinology | ECE2023

Role of macrophages in zona glomerulosa differentiation

Garcia Diana , Wilmouth James , Olabe Julie , Martinez Antoine , Val Pierre

Maturation of the definitive adrenal cortex occurs between 3 and 6 weeks post-partum and involves onset of CYP11B2 expression and establishment of the laminin-encased 3D structure of glomeruli that contain rosettes of 10 to 15 zona glomerulosa (zG) cells that work in coordination to produce optimal amounts of aldosterone. Although this process is dependent on canonical WNT/b-catenin signaling, cellular sources of WNT ligands remain elusive and the mechanisms involved in the ex...

ea0077p17 | Adrenal and Cardiovascular | SFEBES2021

The 4E (Engage, Educate, Equip and Empower): A framework for supporting the approach in the prevention, early recognition and effective management of adrenal crisis in adults

Criseno Sherwin , Gleeson Helena , Shepherd Lisa , Stewart Maria , De Val Jennifer

Introduction: Patients with adrenal insufficiency (AI), continue to face many challenges including: dealing with symptoms and associated disorders; managing medication regimens; prevention and management of complications, and effective engagement and interactions with healthcare providers. In patients with AI, adrenal crisis (AC) continues to lead to unnecessary deaths. We illustrate how University Hospitals Birmingham NHS Foundation Trust used the 4E framework (En...

ea0037ep999 | Thyroid (non-cancer) | ECE2015

Descriptive analysis of a series of 1567 thyroidectomies in Castilla La Mancha and its association with thyroid cancer

Castro Enrique , Herranz Sandra , Delgado Manuel , Calderon Dulce , Alfaro Jose Joaquin , Sastre Julia , Del Val Florentino

Introduction: We wanted to analyse the descriptive variables of a series of 1567 thyroidectomy patients between 2010 and 2013 and its association with malignancy in our series.Material and methods: Retrospective, multicentre study done by review of the medical records of 1567 patients who became thyroidectomy between 2010 and 2013 in eight sanitary areas. This is an analysis of clinical and demographic variables.Results: The percen...

ea0035p90 | Bone and Osteoporosis | ECE2014

Familial hypocalciuric hypercalcemia: an important differential diagnosis from hyperparathyroidism

Luque-Fernandez Ines , Vicente Almudena , Luque Alessandra , Del Val Florentino , Garin Intza , Morlan Miguel Angel

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare, benign, autosomal dominant condition usually caused by heterozygous inactivating mutations in the gene encoding the calcium sensing receptor (CASR).Case: 22-year-old woman referred to endocrinology for suspected polycystic ovary syndrome. Hypercalcemia is detected. Laboratory tests showed persistent hypercalcemia with a serum total calcium of 11.1 mg/dl (8.8–10.2), phosphorus 2.8, i...

ea0029p1635 | Thyroid (non-cancer) | ICEECE2012

Predictors of relapse of Graves’ disease after thionamide drugs treatment in clinical practice

Pena V. , Vicente A. , Maqueda E. , Sastre J. , Val F Del , Marco A. , Luque I. , Lopez J.

Background: One of the main drawbacks of primary treatment of Graves’ disease (GD) with thionamide drugs (TD) is the high relapse rate estimated to be 50–60%. Fear about side effects, specially agranulocitosis and hepatic complications, is other drawback of this treatment option.Objective: To evaluate the clinical and/or biochemical characteristics that might predict relapse in patients with GD treated with TD.Design and ...