Searchable abstracts of presentations at key conferences in endocrinology

ea0028p281 | Reproduction | SFEBES2012

FSH glycosylation in women with polycystic ovary syndrome (PCOS) undergoing ovulation induction

Tracey C , Laura C , Chapman A

Clomiphene is commonly first-line treatment for ovulation induction in women with PCOS. Clomiphene results in a rise in serum FSH concentration; its effect upon FSH glycosylation is less clear. Glycosyl components of serum gonadotrophins are important determinants of their bioactivity.We compared serum FSH glycosylation in blood samples taken from healthy women with regular ovulatory cycles (group A; n=8) and anovulatory women before (group B; ...

ea0056s26.1 | Cortisol: Too much of a Good Thing | ECE2018

Genetics of Cushing’s disease

Ramirez Laura C. Hernandez

Corticotropinomas represent only a small fraction of all the cases of pituitary adenomas, yet they have the potential for great morbidity and mortality. Presenting clinically as Cushing’s disease (CD), corticotropinomas are characterized at the molecular level by resistance to glucocorticoid negative feedback, dysregulation of proteins controlling cell cycle progression, and overexpression of pathways that sustain overactive ACTH production and secretion. Until recently, ...

ea0051oc5.9 | Oral Communications 5 | BSPED2017

Adult height in patients with testotoxicosis

Lane Laura C , Flowers Josephine , Cheetham Timothy

Background: Familial male-limited precocious puberty (FMPP) or ‘testotoxicosis’ is a rare form of gonadotrophin-independent precocious puberty. There is a paucity of data on final adult height in these patients and no consensus on what constitutes appropriate treatment. Our aim was to assess the management and final height of patients with FMPP under our care as well as those reported in the literature.Methods: Growth data were obtained from no...

ea0051p096 | Obesity | BSPED2017

An audit of paediatric obesity in secondary care

Lane Laura C , Cronin Stephen , Hodgson Lisa , Harris Joanne , Floreza Deborah , Kerr Claire , Swan Nancy

Introduction: Despite public health interventions, paediatric obesity in the UK is increasing, with almost one third overweight or obese. The direct cost of obesity to the NHS is estimated at 4.2 billion a year. The North-East has some of the highest rates of obesity in the country. A recent clinical practice guideline (March 2017) from European and US Endocrine societies aims to inform assessment, treatment and prevention of paediatric obesity.Aim: To e...

ea0050p396 | Thyroid | SFEBES2017

Association of a promoter BAFF polymorphism in Graves’ disease

Lane Laura C , Allinson Kathleen , Cordell Heather J , Mitchell Anna L , Pearce Simon

Introduction: B lymphocyte activating factor (BAFF), a member of the tumour necrosis factor family, is essential for B cell activation, differentiation and survival. It promotes autoantibody production and as Graves’ disease is caused by thyroid stimulating autoantibodies, it is an excellent functional candidate gene. Indeed, elevated serum BAFF levels have been found in patients with several autoimmune diseases, including Graves’ disease (GD). The T al...

ea0050p396 | Thyroid | SFEBES2017

Association of a promoter BAFF polymorphism in Graves’ disease

Lane Laura C , Allinson Kathleen , Cordell Heather J , Mitchell Anna L , Pearce Simon

Introduction: B lymphocyte activating factor (BAFF), a member of the tumour necrosis factor family, is essential for B cell activation, differentiation and survival. It promotes autoantibody production and as Graves’ disease is caused by thyroid stimulating autoantibodies, it is an excellent functional candidate gene. Indeed, elevated serum BAFF levels have been found in patients with several autoimmune diseases, including Graves’ disease (GD). The T al...

ea0054is5 | (1) | NuclearReceptors2018

Rapid, cytoplasmic actions of the glucocorticoid receptor impact on cell movement

Kershaw Stephen , Morgan David J , Brass Andrew , Boyd James , Spiller David , Zindy Egor , Iqbal Mudassar , Matthews Laura C , Ray David W

Glucocorticoids (GCs) act through the glucocorticoid receptor (GR) to regulate immunity, energy metabolism, and tissue repair. The inactive GR is held in the cytoplasm in a multi-protein complex, which upon ligand binding undergoes a conformational change. Activated GR translocates to the nucleus to regulate gene expression (over hours), but some effects occur more rapidly. GCs inhibit cell migration through an uncertain mechanism. We now show a very rapid effect, and surprisi...

ea0038p304 | Pituitary | SFEBES2015

The founder R304* AIP mutation is prevalent in Irish acromegaly and gigantism patients as well as in the general population of Ireland

Radian Serban , Diekmann Yoan , Gabrovska Plamena , Holland Brendan , Bradley Lisa , Wallace Helen , Stals Karen , Bussell Anna-Marie , McGurren Karen , Cuesta Martin , Ryan Anthony W , Herincs Maria , Hernandez-Ramirez Laura C , Holland Aidan , Samuels Jade , Aflorei Elena Daniela , Barry Sayka , Denes Judit , Pernicova Ida , Stiles Craig E , Trivellin Giampaolo , McCloskey Ronan , Ajzensztejn Michal , Abid Noina , Akker Scott A , Mercado Moises , Cohen Mark , Thakker Rajesh V , Baldeweg Stephanie , Barkan Ariel , Musat Madalina , Levy Miles , Orme Steve , Unterlander Martina , Burger Joachim , Kumar Ajith V , Ellard Sian , McPartlin Joseph , McManus Ross , Linden Gerard J , Atkinson Brew , Thomas Mark G , Balding David J , Agha Amar , Thompson Chris J , Hunter Steve J , Morrison Patrick J , Korbonits Marta

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...