Searchable abstracts of presentations at key conferences in endocrinology

ea0073ep178 | Reproductive and Developmental Endocrinology | ECE2021

Precocious puberty: two siblings, two diagnosis

Maria João Ferreira , Moita Rita , Ferreira Sofia , Costa Carla , Santos Silva Rita , Cíntia Castro-Correia

8-year-old girl is referred to a Pediatric Endocrinologist for the appearance of thelarche, first noted at 6.5 years. She had a relevant clinical history of a neonatal meningitis, requiring prolonged hospitalization and the need for ventriculoperitoneal shunt. On physical examination, she had breast development and dark, coarse pubic hair compatible with Tanner stage 3. She weighed 32.3 kg (percentile – Pc- 75–90), her height was 128 cm (Pc 50) and her annual growth ...

ea0073ep209 | Thyroid | ECE2021

Differentiated thyroid carcinoma with metastatic presentation

Almeida Lucia , Almeida Ferreira Marta , Sousa Ana , Alves Helena , Ramalho Diogo , Correia Sara , Maria João Oliveira

IntroductionFollicular thyroid carcinoma (FTC) has metastasis in 10-15%; papillary thyroid carcinoma (PTC) rarely metastasizes. Bone metastasis are rare and can cause pain, fractures and spinal cord compression.Case-172 year-old male referred to the hospital with lower back pain. Imaging examination revealed lytic lumbar lesions. Thoracic-abdominal-pelvic-CT showed trachea compression by a multinodular right ...

ea0095oc10.1 | Oral Communications 10 | BSPED2023

The real-world experience of long acting growth hormone in children with growth hormone deficiency

Ramya Gokul Pon , Jarvis Charlotte , Laing Peter , Das Urmi , Ramakrishnan Renuka , Dharmaraj Poonam , Blair Jo , Didi Mohammed , Senniappan Senthil

Introduction: Long-acting growth hormone (LaGH) therapy has emerged as a newer treatment option for children, with the potential to improve adherence and compliance. Clinical trials have shown LaGH formulations to be effective and safe in children with GH deficiency (GHD). Somatrogon (Ngenla) is licensed for use in children with GHD over than 3 years of age.Objective: We report the real-world experience of using once wee...

ea0099ep1227 | Late Breaking | ECE2024

Patient perception of unmet needs for multiple endocrine neoplasia (MEN) in germany

Schubert Rosemarie , Bruegmann Petra , Grey Jo , de Graaf Johan , Fleischer Juliet , Schmelzer Helga , Drewitz Philipp , Schaaf Ludwig

The German Network for Pituitary and Adrenal Disorders (Netzwerk Hypophysen- und Nebennierenerkrankungen e.V.) conducted a nationwide survey on unmet needs of patients with multiple endocrine neoplasia (MEN) in Germany. The study aimed to identify unmet needs in patient care and quality of life, as well as potential areas for improvement.Methods: The survey was based on a questionnaire developed by the European MEN Alliance (EMENA) and was distributed by...

ea0081oc13.3 | Oral Communications 13: Adrenal and Cardiovascular Endocrinology 2 | ECE2022

11-oxygenated C19 steroids are the predominant androgens responsible for hyperandrogenemia in Cushing’s disease

Nowotny Hanna , Vogel Frederick , Bidlingmaier Martin , Braun Leah , Reincke Martin , Tschaidse Lea , Auer Matthias , Lottspeich Christian , Hawley James M , Adaway Jo , Keevil Brian , Schilbach Katharina , Reisch Nicole

Background: Symptoms of hyperandrogenism are common in patients with Cushing’s disease (CD), but they cannot be sufficiently explained by measured concentrations of circulating androgens. In this study we analyzed the contribution of 11-oxygenated (11o×C19) androgens to hyperandrogenemia in female patients with CD as well as the influence of treatment with steroidogenesis inhibitors osilodrostat and metyrapone on 11o×C19 and classic androgens.<p class="abste...

ea0081oc13.4 | Oral Communications 13: Adrenal and Cardiovascular Endocrinology 2 | ECE2022

Classic and 11-oxygenated androgens in serum and saliva across adulthood and the menstrual cycle – a mass spectrometry-based cross-sectional study

Kempegowda Punith , Schiffer Lina , Adaway Jo , Shaheen Fozia , Ebbehoj Andreas , Singh Sumitabh , Prete Alessandro , Hawley James M , Sitch Alice J , Keevil Brian , Bancos Irina , Taylor Angela , Arlt Wiebke

Objective: Quantify classic and 11-oxygenated androgens in serum and saliva and determine variations across age, sex, body mass index (BMI), menstruation and hormonal contraception use.Methods: Morning serum samples were collected from 292 healthy volunteers (125 men, 22-95 years; 167 women, 21-91 years). Morning saliva was collected from 83 healthy volunteers (51 women, 32 men). 25 individuals (12 women, 13 men) also collected a 7-timepoint diurnal sali...

ea0063gp7 | Adrenal and Neuroendocrine - Tumour | ECE2019

Parafibromin is regulated by ubiquitin specific protease 37 (USP37) and the c-terminus of USP37 interacts with the beta-catenin binding region of CDC73 in hyperparathyroidism-jaw tumor syndrome

Kim Su Yeon , Lee Ji-young , Jo Kwan Hoon , Mo Eun Yeong , Kim Eun Sook , Han Je Ho , Baek Kwang-Hyun

CDC73 (also known as HRPT2) encodes parafibromin and is known to be the causative gene of hyperparathyroidism-jaw tumor (HPT-JT) syndrome. There is no known ubiquitination of parafibromin, and the deubiquitinating enzyme (DUB) for parafibromin has not been identified to date. Full-length DUB cDNAs encoding 58 family members of ubiquitin specific proteases (USPs) were subcloned. The DUB cDNA was used to identify parafibromin interacting by yeast two-hybrid screening. W...

ea0037ep442 | Diabetes (complications &amp; therapy) | ECE2015

Hemorheological alterations in type 2 diabetes patients with nephropathy

Lee Min Young , Jo Sehee , Kim Min Jin , Nam Ji Sun , Kang Shinae , Park Jong Suk , Ahn Chul Woo , Kim Kyung Rae

Background: Hemorheologic alterations or changes in blood viscosity have been suggested to play a role in the pathogenesis of diabetic microvascular complications. We measured various hemorheologic parameters in type 2 diabetes patients at different stages of chronic kidney disease (CKD) and assessed their possible role as early markers of diabetic nephropathy and renal insufficiency.Methods: One hundred and five patients with type 2 diabetes were divide...

ea0034p397 | Thyroid | SFEBES2014

Examination of PTTG-binding factor mRNA reveals functional miRNA target sites and exon-skipping splice variants in thyroid cells

Read Martin , Longman Jo , Fletcher Alice , Smith Vicki , Watkins Rachel , Modasia Bhavika , Poole Vikki , Imruetaicharoenchoke Waraporn , Franklyn Jayne , Boelaert Kristien , McCabe Christopher

Dysregulation of the processing and stability of mRNA encoding oncogenes or tumour suppressor proteins is a critical event in the pathogenesis of cancer. Previously, we demonstrated that the proto-oncogene PTTG-binding factor (PBF) is overexpressed in thyroid, pituitary and breast tumours. Critically, high PBF expression is associated with reduced disease-specific survival in thyroid cancer. However, the mechanisms responsible for regulating PBF expression are unknown. In this...

ea0070aep652 | Pituitary and Neuroendocrinology | ECE2020

Acrodat – a useful tool to manage acromegaly patients

Alves Helena , Almeida Ferreira Marta , Tavares Patrícia , Ramalho Diogo , Machado Catarina , Almeida Lucia , Correia Sara , João Oliveira Maria

Introduction: Acromegaly is a rare condition associated with metabolic abnormalities, risk of cardiovascular complications and increased mortality. Even when biochemical control is achieved, following surgery or medical treatment, patients still complain about disease-related symptoms.Material and Methods: Retrospective study of acromegaly patients, followed in an Endocrine outpatient clinic. Clinical and biochemical data was recorded. ACRODAT was used t...