Searchable abstracts of presentations at key conferences in endocrinology

ea0094p284 | Thyroid | SFEBES2023

Systematic review and meta-analysis (SRMA) of RAI monotherapy vs combination therapy for toxic nodular goiter (TMNG)

Huei-Sook Park Rachel , Tan Yi Rong Eugene , Pinto Diluka , Samuel Miny , Christine De Jong Mechteld , Parameswaran Rajeev

Background: Treatment options for patients with toxic multinodular goitre (TMNG) include antithyroid medications, thyroidectomy, and radioactive iodine (RAI) therapy. Our aim was to investigate the efficacy of RAI alone compared to combination therapy that includes RAI with medical therapy.Methods: Search was performed using MEDLINE, MEDLINE In-Process (PubMed platform), Embase (Elsevier platform), BIOSIS and Cochrane wa...

ea0095oc1.2 | Oral Communications 1 | BSPED2023

45,X/46,XY DSD with gender dysphoria: the conundrum around pubertal induction

Chatterjee Sumana , Alderson Julie , Edwards Zoe , Mcandrew Fiona , Williams Cara , Das Urmi , Awad Karim , Park Julie , Giri Dinesh

Introduction: Mixed gonadal dysgenesis (MGD) is a rare form of difference in sex development (DSD) characterised by mosaic karyotype of 45,X/46,XY and dysgenetic gonads. Gender dysphoria can be associated, the frequency of which is unknown. We describe 2 cases of MGD with gender dysphoria and the conundrum around pubertal induction.Case 1: An 8-year-old, reared as a girl, presented with longstanding concerns about appear...

ea0101ps2-12-01 | Diagnosis of thyroid cancer-1 | ETA2024

The clinical significance of markedly elevated preoperative serum thyroglobulin levels

Kim Daham , Hee Park Se , Kyong Kim Jin , Kang Sang-Wook , Ju Jeong Jong , Nam Kee-Hyun , Youn Chung Woong

Objectives: Any condition involving increased follicular cell mass may raise serum thyroglobulin levels. However, we occasionally encounter patients with markedly elevated preoperative thyroglobulin levels, indicating thyroid cancer with substantial metastatic burden. We aimed to investigate the clinical significance of markedly elevated preoperative serum thyroglobulin levels.Methods: From 2019 to 2021, we analyzed patients underwent thyroid surgery for...

ea0101ps3-22-01 | Diagnosis of thyroid cancer-2 | ETA2024

Ultrasonographic features predicting lateral cervical lymph node metastases in patients with papillary thyroid microcarcinoma

Kyung Kim Hee , Hee Yoon Jee , Yong Park Ji , Ram Hong A , Seong Cho Jin , Kang Ho-Cheol

Background: Papillary thyroid microcarcinoma (PTMC) is characterized by its favorable prognosis and potential for active surveillance (AS) as a management option. However, the presence of cervical lymph node (LN) metastasis, especially lateral LN metastasis, significantly impacts both management and prognosis. This study identified predictors of lateral LN metastasis by analyzing pre-operative ultrasonographic findings alongside clinicopathological factors.<p class="abstex...

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...