Searchable abstracts of presentations at key conferences in endocrinology

ea0025oc4.1 | Bone and diabetes | SFEBES2011

A mouse with an ENU-induced mutation (Tyr209Asn) in the natriuretic peptide receptor 3 (Npr3) develops autosomal recessive kyphosis

Esapa Christopher , Head Rosie , Thomas Gethin , Brown Matthew , Croucher Peter , Cox Roger , Brown Steve , Thakker Rajesh

Kyphosis is a common spinal disorder affecting up to 8.3% of the population, and associated with significant morbidity. Familial and twin studies have implicated a genetic involvement. However, the causative genes have not been identified. Studies investigating the underlying molecular mechanisms are hampered by genetic heterogeneity, small families and variable modes of inheritance displayed by different kindreds. To overcome these limitations, we investigated 12 week old pro...

ea0025p14 | Bone | SFEBES2011

A gene causing autosomal dominant kyphoscoliosis in an N-ethyl-N-nitrosourea (ENU) mutagenised mouse model is located on a 5 Mb interval on mouse chromosome 4 band A3

Esapa Christopher , Head Rosie , Evans Holly , Thomas Gethin , Brown Matthew , Croucher Peter , Cox Roger , Brown Steve , Thakker Rajesh

Kyphosis and scoliosis are common spinal disorders that lead to significant morbidity in childhood, adolescence and adulthood. Familial and twin studies have implicated a genetic involvement, although the causative genes remain to be identified. To facilitate these studies, we investigated 12-week-old progeny of mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) using phenotypic assessments that included dysmorphology, radiography and dual-energy ...

ea0077p10 | Adrenal and Cardiovascular | SFEBES2021

Method of venesection and location of peripheral sample alter adrenal venous sampling results and interpretation in primary aldosteronism

Mourougavelou Vishnou , Wu Xilin , Goodchild Emily , Argentesi Giulia , Laycock Kate , Akker Scott , Druce Maralyn , Sze Candy , Waterhouse Mona , Dawnay Anne , Matson Matthew , Brown Morris , Drake William , O’Toole Sam

Introduction: Adrenal venous sampling (AVS) is the criterion standard method of lateralisation in primary aldosteronism (PA). Despite this pivotal role, there is limited consensus and significant variability between centres related to many of the technical aspects of AVS. In this study, we sought to address whether variations in two different technical aspects of AVS altered parameters and interpretation, namely: 1. Peripheral sample site 2. Method of adrenal vein (AV) venesec...

ea0034oc4.6 | Thyroid and bone | SFEBES2014

An ENU-induced Tyr265Stop mutation in Polg2 is associated with renal calcification in RCALC2 mice

Gorvin Caroline , Piret Sian , Ahmad Bushra , Stechman Michael , Loh Nellie , Hough Tertius , Leo Paul , Marshall Mhairi , Sethi Siddharth , Bentley Liz , Reed Anita , Christie Paul , Simon Michelle , Mallon Ann-Marie , Brown Matthew , Cox Roger , Brown Steve , Thakker Rajesh

Renal calcification (nephrocalcinosis), which has a multi-factorial etiology involving environmental and genetic determinants, affects ~8% of adults by 70 years. Nephrocalcinosis may occur as a familial disorder in ~65% of patients, and in 70% of patients, nephrocalcinosis may be associated with endocrine and metabolic disorders that include primary hyperparathyroidism, renal tubular acidosis, hypercalciuria, cystinuria, and hyperoxaluria. Investigations of families with hered...

ea0070aep1019 | Hot topics (including COVID-19) | ECE2020

A global natural history study of Fibrodysplasia Ossificans Progressiva (FOP): 12-month outcomes

Mukaddam Mona Al , Pignolo Robert J. , Baujat Geneviève , Brown Matthew A , De Cunto Carmen , Di Rocco Maja , Hsiao Edward C. , Keen Richard , Le Quan Sang Kim-Hanh , Strahs Andrew , Marino Rose , Kaplan Frederick S

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by cumulative heterotopic ossification (HO), often preceded by episodic flare-ups, leading to physical disability and early death. Initial misdiagnosis can occur in ~90% of individuals leading to unnecessary, often harmful interventions. FOP is diagnosed and managed by multiple specialists, including endocrinologists.Objective: A prospective, 36-month, global natural...

ea0031oc2.6 | Steroids and thyroid | SFEBES2013

An N-ethyl-N-nitrosourea induced Corticotrophin releasing hormone promoter mutation provides a mouse model of Cushing's syndrome

Bentley Liz , Esapa Christopher T , Nesbit M Andrew , Head Rosie A , Evans Holly , Lath Darren , Hough Tertius A , Podrini Christine , Fraser William D , Croucher Peter I , Brown Matthew A , Brown Steve D M , Cox Roger D , Thakker Rajesh V

CushingÂ’s syndrome, which is characterised by excessive circulating glucocorticoid (GC) concentrations, may be due to ACTH-dependent or -independent causes that include anterior pituitary and adrenal cortical tumours, respectively. In the course of our phenotype-driven screens of mouse mutants induced by the chemical mutagen N-ethyl-N-nitrosourea (ENU), we observed a mutant mouse with obesity, hyperglycaemia and low bone mineral density, features that ar...