Searchable abstracts of presentations at key conferences in endocrinology

ea0094oc5.1 | Adrenal and Cardiovascular | SFEBES2023

Urine steroid metabolomics as a diagnostic tool in endocrine hypertension

Prete Alessandro , Abdi Lida , Suntornlohanakul Onnicha , Lang Katharina , Riancho Julien , Lazkani Aida , Larsen Casper K. , Gimenez-Roqueplo Anne-Paule , Pecori Alessio , Tetti Martina , Monticone Silvia , Muller Lisa M. , Adolf Christian , Timmers Henri J.L.M. , Hampson Stephanie , Eisenhofer Graeme , Ceccato Filippo , Beuschlein Felix , Kabat Marek , Bertherat Jerome , Dennedy Conall , Davies Eleanor , Deinum Jaap , Reincke Martin , Paolo Rossi Gian , Mulatero Paolo , Amar Laurence , Zennaro Maria-Christina , Sitch Alice J. , Tino Peter , Biehl Michael , Taylor Angela E. , Arlt Wiebke

Background: Hypertension affects more than 30% of the adult population worldwide and is a major cardiovascular risk factor. Identifying secondary causes of hypertension is key to offering targeted treatment and mitigating adverse health outcomes. We tested the performance of urine steroid metabolomics (USM), the computational analysis of 24-hour urine steroid metabolome data by machine learning, for diagnosing endocrine hypertension.<str...

ea0099rc11.4 | Rapid Communications 11: Adrenal and Cardiovascular Endocrinology | Part II | ECE2024

Urine steroid metabolomics to diagnose endocrine hypertension: results from the ENS@T-HT project

Prete Alessandro , Abdi Lida , Suntornlohanakul Onnicha , Lang Katharina , Veen Roland , Canducci Marco , Riancho Julien , Lazkani Aida , Larsen Casper K. , Gimenez-Roqueplo Anne-Paule , Pecori Alessio , Tetti Martina , Monticone Silvia , Muller Lisa M. , Adolf Christian , Timmers Henri JLM , Hampson Stephanie , Eisenhofer Graeme , Ceccato Filippo , Beuschlein Felix , Kabat Marek , Bertherat Jerome , Dennedy M. Conall , Davies Eleanor , Deinum Jaap , Reincke Martin , Rossi Gian Paolo , Mulatero Paolo , Amar Laurence , Zennaro Maria-Christina , Sitch Alice J. , Tino Peter , Biehl Michael , Taylor Angela E. , Arlt Wiebke

Background: Hypertension affects more than 30% of the adult population worldwide and is a major cardiovascular risk factor. Identifying secondary causes of hypertension is key to offering targeted treatments and mitigating adverse health outcomes. We tested the performance of urine steroid metabolomics (USM), the computational analysis of 24-hour urine steroid metabolome data by machine learning, for diagnosing endocrine forms of hypertension.Methods: 14...

ea00100wb5.2 | Workshop B: Disorders of the hypothalamus and pituitary (II) | SFEEU2024

Acromegaly presenting with plantar fasciitis and headaches

Biddanda Aiyappa , Baldeweg Stephania

50 M presented to our hospital with plantar foot pain and clawing of the toes in his right foot for a period of 12 months and a 4 month history of headaches. He was initially managed with physiotherapy and neurology undertook MRI scans. MRI: The pituitary gland is enlarged due to a right-sided hypoenhancing lesion measuring 9.5 × 9 × 6.5 mm. No further pituitary lesion is identified. The pituitary infundibulum is at the midline. The optic chiasm is not displaced. On ...

ea0003oc2 | Genetics: New Insights into Endocrine Disease | BES2002

GATA3 mutations in the hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome

Nesbit M , Bowl M , Harding B , Crowe C , Dobbie A , Hampson G , Holdaway I , Rigden S , Sampson J , Thakker R

The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder that is due to a haploinsufficiency of the zinc-finger transcription factor, GATA3 (Nature (2000) 406: 419) whose gene is located on chromosome 10p15. In order to further characterise GATA3 abnormalities we have investigated 6 HDR patients for GATA3 mutations. Leukocyte DNA samples from the 6 probands and an unrelated normal individual were used with 9 pairs of oligonucleotide...

ea0041s9.1 | Bone marrow adipose tissue - A "novel" functionally active fat depot | ECE2016

Bone Marrow Adipose Tissue and bone, a bad romance

Lucas Stephanie

Bone Marrow Adipose Tissue (BMAT) has only recently become an emerging topic in both medical and basic research. As secretory cells found either packed or scattered within the BM, these adipocytes are likely contributors to haematopoiesis- or bone- related diseases. Indeed, clinical studies have consistently reported that BMAT amount is associated with bone loss in diverse types of osteoporosis such as that of ageing, post-menopause and anorexia nervosa. Since BM adipocytes an...

ea0031cmw4.1 | Managing Hypoglycaemia | SFEBES2013

Hypoglycaemia in diabetes: effects on cerebral and autonomic function

Amiel Stephanie

Hypoglycaemia (low blood glucose) is the most important acute side effect of insulin and insulin secretagogue therapies for diabetes mellitus. The initial response to a threat to the circulating glucose concentration is cessation of endogenous insulin and stimulation of pancreatic glucagon release – neither of which happen in insulin deficient diabetes. Patients with diabetes depend on other autonomic and most importantly symptomatic responses to defend against falls in b...

ea0019s44 | Kisspeptin: a novel regulator of puberty and fertility | SFEBES2009

Human kisspeptin receptor mutations and puberty

Seminara Stephanie

Kisspeptin is an undisputed regulator of sexual maturation and reproductive function across mammalian species. Mutations in human patients in either kisspeptin and/or its receptor are rare in number but prismatic in scope and have led to unique genotype/phenotype and structure/function correlations. Mice with targeted deletions of either kisspeptin or its receptor have also contributed greatly to our understanding of the physiology underlying this critical pathway in reproduct...

ea0094p220 | Metabolism, Obesity and Diabetes | SFEBES2023

Hepatic dysmetabolism in polycystic ovarian syndrome: Impact of paraoxonase-1 modulation by butyrate

Areloegbe Stephanie

The complications of endocrine-metabolic disorders among women of reproductive age, such as polycystic ovarian syndrome (PCOS), are cascade of events leading to cardiovascular diseases, as well as non-alcoholic fatty liver disease (NAFLD) which is the leading cause of liver cirrhosis and hepatic carcinoma that often necessitates organ transplant. Paraoxonase-1 (PON-1) has been shown to be protective against metabolic assaults. However, its role in hepatic glucolipid regulation...

ea0034s5.1 | Endocrine consequences of major trauma | SFEBES2014

The immune-endocrine mechanisms of trauma-induced sarcopenia

Hampson Peter , Foster Mark , Taylor Angela , Bentley Conor , Fallowfield Joanne , Midwinter Mark , Arlt Wiebke , Lord Janet

Advances in trauma care have improved survival resulting in more severely injured individuals surviving to enter the trauma care pathway. A significant threat to recovery is now the dysregulated immune response to injury. The hyperinflammatory response of the innate immune system (SIRS), combined with immunoparesis, leads to complications such as multi-organ failure and sepsis. Moreover, recovery from trauma is significantly affected by age, which may be due to changes in the ...