hrp0086fc5.1 | Management of Disorders of Insulin Secretion | ESPE2016

The Anti-diabetic Drug, Metformin, Suppresses Adipogenesis through both AMP-activated Protein Kinase (AMPK)-dependent and AMPK-independent Mechanisms

Chen Suet Ching , Brooks Rebecca , Houskeeper Jessica , Bremner Shaun K , Dunlop Julia , Viollet Benoit , Salt Ian P , Ahmed S Faisal , Yarwood Stephen J

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 μM), AMPK-activator A769662(...

hrp0094wg2.2 | ESPE Working Group on Obesity (OWG) Symposium | ESPE2021

Maternal obesity and offspring health

Reynolds Rebecca ,

Maternal obesity is the most common metabolic disturbance in pregnancy affecting more than 1 in 5 women in some regions. Obesity has short term risks during pregnancy for both mother and child, with increasing evidence demonstrating that there are also longer term risks of these exposures in pregnancy impacting on health of the offspring across the lifespan. Consistent and increasing evidence demonstrates a range of adverse health outcomes for offspring born to mothers who are...

hrp0084p2-533 | Puberty | ESPE2015

The Relationship between Steriod Receptors and Aromatase in the Mouse Brain

Yilmaz Bertan , Zhao Hong , Brooks David , Fenkci Veysel , Yenicesu Gonca , Attar Erkut , Bulun Serdar

Background: Local oestrogen production in the brain regulates critical functions including neuronal development, gonadotropin secretion and sexual behaviour. In the mouse brain, a 36 kb distal promoter (l.f) regulates the Cyp19a1 gene that encodes aromatase, the key enzyme for oestrogen biosynthesis. In vitro, promoter l.f interacts with oestrogen receptor alpha (Esr1) and Progesterone receptor (Pgr) to mediate Cyp19a1 mRNA expressi...

hrp0097p1-363 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Xanthomatous hypophysitis: A rare cause of paediatric hypopituitarism

Bendor-Samuel Owen , Statchard Rebecca , Daskas Nikolaos

Primary Xanthomatous Hypophysitis (XH) is the rarest histological subtype of hypophysitis. Here we describe the case of a young 9-year-old girl diagnosed with this condition. The patient presented with a four-month history of an intermittent temporal-frontal headache that became gradually worse and constant for three days prior to admission. She did not have clinical signs or symptoms suggestive of increased intracranial pressure but had mild ataxia. On admission she was febri...

hrp0095p1-276 | Fat, Metabolism and Obesity | ESPE2022

Natural History of Pregnancy and Pregnancy Outcomes in Metreleptin-Treated vs Untreated Subjects with Lipodystrophy

Brite Brianna , Abel Brent , Cochran Elaine , Brown Rebecca

Metreleptin is a leptin analog used to treat metabolic complications of lipodystrophy, a set of rare disorders characterized by generalized (GL) or regional (PL) deficiency of adipose tissue, resulting in insulin resistance, diabetes, dyslipidemia, steatohepatitis, and reproductive dysfunction. Metreleptin increases fertility, particularly in GL; spontaneous pregnancy without metreleptin was reported in only 4 patients with GL. Risks of metreleptin suggested by rodent studies ...

hrp0095p1-322 | Growth and Syndromes | ESPE2022

Analysis of genetic variability in 134 women with Turner Syndrome using high-throughput next-generation sequencing

P. Suntharalingham Jenifer , Ishida Miho , Cameron-Pimblett Antoinette , M. McGlacken-Byrne Sinead , Del Valle Ignacio , Buonocore Federica , Brooks Anthony , Kaur Madhan Gaganjit , Genomics Sequencing Facility UCL , S. Conway Gerard , C. Achermann John

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

hrp0097ha1 | An integrated roadmap of human fetal adrenal gland development | ESPE2023

An integrated roadmap of human fetal adrenal gland development

del Valle Ignacio , Young Matthew , Kildisiute Gerda , Ogunbiyi Olumide , Buonocore Federica , Simcock Ian , Khabirova Eleonora , Crespo Berta , Moreno Nadjeda , Brooks Tony , Niola Paola , Swarbrick Katherine , Suntharalingham Jenifer , McGlacken-Byrne Sinead , Arthurs Owen , Behjati Sam , Achermann John

Introduction: The human adrenal gland originates from the adrenogonadal primordium at around 4 weeks post conception (wpc) and undergoes marked developmental changes throughout the first half of pregnancy. Several key aspects of adrenal maturation are well-established, such as the formation of a large inner fetal zone (FZ) and synthesis of dehydroepiandrosterone, but many other processes contributing to adrenal gland development and function in humans are stil...

hrp0097fc7.2 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Mapping the transcriptomic landscape of early human fetal ovary development through a clinically-focused lens

M McGlacken-Byrne Sinead , Del Torres Ignacio , P Suntharalingham Jenifer , Buonocore Federica , HDBR ICH , Crespo Berta , Moreno Nadjeda , C Simcock Ian , Arthurs Owen , Xenakis Theodoros , Niola Paola , Brooks Tony , T Dattani Mehul , C Achermann John

Introduction: Ovary development was once considered a largely passive process. RNA sequencing (RNAseq) approaches have allowed us to begin to characterise ovary development in previously unparalleled detail, revealing the process to be complex and, still, little understood. A challenge is synthesising and using these data to advance our understanding of clinical disease. Through a clinically-focused lens, we elucidate novel aspects of the transcriptional lands...

hrp0092p1-9 | Adrenals and HPA Axis | ESPE2019

A Simulation-based Intervention Teaching Illness Management Skills to Caregivers of Children with Adrenal Insufficiency: a Randomised Controlled Study

Virtanen Heidi , Pyra Eileen , Schawrz Wendy , Catena Helen , Cripps Amy , Grant Vincent , Cheng Adam , Perry Rebecca

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...

hrp0082fc7.5 | Growth promoting therapies | ESPE2014

Impact of GH on Adult Bone Quality in Turner Syndrome: a High Resolution Peripheral Quantitative Computed Tomography Study

Nour Munier A , Perry Rebecca J , Stephure David K , Hanley David A , Boyd Steven K

Background: Women with Turner syndrome (TS) are known to be at risk of osteoporosis and fracture. While childhood GH treatment is common in TS, the impact of this therapy on bone health has been poorly understood.Objective: The purpose of this study was to determine the effect of childhood GH-treatment on adult bone quality in TS women using dual X-ray absorptiometry (DXA) and high resolution peripheral quantitative computed tomography (HR-pQCT).<p c...