Searchable abstracts of presentations at key conferences in endocrinology

ea0050cc06 | Featured Clinical Cases | SFEBES2017

Activating mutation in the arginine vasopressin receptor AVPR2 resulting in nephrogenic syndrome of inappropriate antidiuresis in a female

Majeed Mohamed Ashif , Hague Jennifer , Powlson Andrew S , Hale Julia , Casey Ruth , Oddy Sue , Gurnell Mark , Park Soo-Mi , Simpson Helen

Introduction: Hyponatraemia is the commonest electrolyte disturbance, but is not common in young people. Here, we describe a female subject, with recurrent unexplained symptomatic hyponatraemia in whom we considered the possibility of an activating mutation in the arginine vasopressin receptor type 2 (AVPR2) as a rare cause of Syndrome of Inappropriate Anti-Diuresis (SIAD).Case: A 39 year old woman had a history of unexplained hyponatraemia (serum sodium...

ea0050cc06 | Featured Clinical Cases | SFEBES2017

Activating mutation in the arginine vasopressin receptor AVPR2 resulting in nephrogenic syndrome of inappropriate antidiuresis in a female

Majeed Mohamed Ashif , Hague Jennifer , Powlson Andrew S , Hale Julia , Casey Ruth , Oddy Sue , Gurnell Mark , Park Soo-Mi , Simpson Helen

Introduction: Hyponatraemia is the commonest electrolyte disturbance, but is not common in young people. Here, we describe a female subject, with recurrent unexplained symptomatic hyponatraemia in whom we considered the possibility of an activating mutation in the arginine vasopressin receptor type 2 (AVPR2) as a rare cause of Syndrome of Inappropriate Anti-Diuresis (SIAD).Case: A 39 year old woman had a history of unexplained hyponatraemia (serum sodium...

ea0069p62 | Poster Presentations | SFENCC2020

Breast Cancer in MEN1: Coincidence or association?

Cheah Seong Keat , Chad Bisambar , Pitfield Deborah , Giger Olivier , ten Hoopen Rogier , Martin Jose Ezequiel , Park Soo-Mi , Parkinson Craig , Challis Benjamin , Casey Ruth

Section 1: Case history: A 38 year old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.13404delG) through predictive testing, following a diagnosis of familial hyperparathyroidism.Section 2: Investigations: Routine screening for hyperparathyroidism and pituitary disease was negative. However, a CT thorax–abdomen–pelvis revealed a 41 mm pancreatic tail mass. Biopsy via endoscopic ultrasound confirmed a well-d...

ea0065op4.2 | Bone and Calcium | SFEBES2019

Identification of novel pathogenic variants and phenotypic features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly defined inactivating PTH/PTHrP signalling disorders (iPPSD) classification system

Truelove Adam , Mulay Akhilesh , Prapa Matina , Casey Ruth , Adler Amanda , Offiah Amaka , Poole Kenneth , Trotman Jamie , Hasso Namir Al , Park Soo-Mi

Due to overlapping clinical and biochemical features, disorders now known to be molecular defects in the parathyroid hormone (PTH)-receptor signalling pathway, such as Albright Hereditary Osteodystrophy (AHO), pseudohypoparathyroidism (PHP), and acrodysostosis, have been historically confused. AHO is a complex disorder defined by the presence of a short adult stature relative to the height of an unaffected parent and brachydactyly type E, as well as a stocky build, round face,...

ea0065p150 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019

Breast cancer in MEN1: coincidence or association?

Cheah Seong Keat , Bisambar Chad , Pitfield Deborah , Giger Olivier , Hoopen Rogier ten , Martin Jose Ezequiel , Clark Graeme , Park Soo-Mi , Parkinson Craig , Challis Bejamin , Casey Ruth

A 38 year old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.13404delG) through predictive testing, following a diagnosis of familial hyperparathyroidism. Routine screening for hyperparathyroidism and pituitary disease was negative. However, a CT thorax-abdomen-pelvis revealed a 41 mm pancreatic tail mass. Biopsy via endoscopic ultrasound confirmed a well-differentiated (grade 1) pancreatic neuroendocrine tumour (pNET) with MIB1<1%. Bi...

ea0063gp38 | Metabolic Syndrome and Hypoglycaemia | ECE2019

Beta cell senescence: effect of glucotoxicity and glucolipotoxicity

Kim Mi-kyung , Jung Hye Sook , Jang Jeong Eun , Kim Tae Nyun , Kwon Min Jeong , Lee Soon Hee , Rhee Byung Doo , Park Jeong Hyun

Pancreatic beta cell senescence is one of the recent explanations for theincreased prevalence of type 2 diabetes in the elderly. Aging may exert a distinct influence on pancreatic β cell turnover, regeneration capacity and function. Oxidative stresses induced by metabolic stresses reduce pancreatic beta cell mass and secretion. We investigated how metabolic stresses effect on pancreatic beta cell senescence. INS-1 cells were exposed to 33mM glucose (glucotoxicity: high gl...

ea0063gp229 | Adrenal and Neuroendocrine - Clinical (1) | ECE2019

Melatonin prevented beta cell senescence against glucolipotoxicity

Kim Mi-kyung , Jung Hye Sook , Jang Jeong Eun , Kim Tae Nyun , Kwon Min Jeong , Lee Soon Hee , Rhee Byung Doo , Park Jeong Hyun

Beta cell senescence is being regarded as the one of the mechanisms of beta cell dysfunction. Melatonin secreted primarily from the pineal glandregulates a variety of physiological functions, such as sleep, circadian rhythms, and neuroendocrine actions. Melatonin has also very strong anti-oxidant effects. The effects of melatonin on the pancreatic beta cell senescence induced by glucolipotoxicity have not been studied. INS-1 cells were exposed to 33mM glucose with palmitate 20...

ea0049oc9.4 | Thyroid Disease 2 | ECE2017

Thyroid dysfunction during the use of PD-1/PD-L1 blockade predicts its therapeutic response in the patients with advanced non-small cell lung cancer

Kim Hye In , Kim Tae Hyuk , Jang Hye Won , Kim Young Nam , Kim Hosu , Park So Young , Kim Sun Wook , Chung Jae Hoon

Background: PD-1/PD-L1 blockade is one of the promising drugs in the treatment of advanced non-small cell lung cancer (NSCLC). and predicting drug effect is important due to unique pattern of response. Immune-related adverse event (IRAE) might be associated with favorable clinical outcome. Thyroiditis is the most common IRAE which can be easily detected with the measurement of thyroid hormone levels. However, the relationship between thyroid dysfunction during the use of PD-1/...

ea0049gp219 | Thyroid 3 | ECE2017

Delayed TSH recovery after dose adjustment during TSH-suppressive levothyroxine therapy in patients with differentiated thyroid cancer

In Kim Hye , Hyuk Kim Tae , Nam Kim Young , Kim Hosu , Young Park So , Jae Chung Yun , Hoon Chung Jae , Wook Kim Sun

Background: Delayed thyroid-stimulating hormone (TSH) recovery during treatment of Graves’ disease is caused by long-term excessive thyroid hormone, which results in down-regulation of pituitary thyrotropic cells. However, it is unknown whether delayed TSH recovery exists after levothyroxine (LT4) dose adjustment in patients with differentiated thyroid cancer (DTC) who are taking a suppressive dose of LT4.Methods: We retrospectively reviewed 97 DTC ...

ea0049ep1366 | Thyroid (non-cancer) | ECE2017

Dynamic risk stratification for predicting recurrence in patients with differentiated thyroid cancer treated without radioactive iodine remnant ablation therapy

Park Suyeon , Kim Won Gu , Song Eyun , Oh Hye-Seon , Kim Mijin , Kwon Hyemi , Jeon Min Ji , Kim Tae Yong , Shong Young Kee , Kim Won Bae

Background: Increased incidence of small differentiated thyroid cancer (DTC) has emphasized the need for risk stratification and individualized disease management for these low risk DTCs. The aim was to validate a new dynamic risk stratification (DRS) system for prediction of structural recurrent/persistent disease in patients with DTC treated without radioactive iodine (RAI) remnant ablation therapy.Methods: This historical cohort study included 357 pat...