Searchable abstracts of presentations at key conferences in endocrinology

ea0084ps1-04-36 | Thyroid Hormone Transporters and Development | ETA2022

Thyroid hormone signaling in a human cellular model for early brain development

Gunhanlar Nilhan , Tellez Garcia Juan , Lopez Marti Anna , Shokrollahi Faezeh , Meima Marcel , Edward Visser W.

Background and Objective: Disrupted thyroid hormone (TH) signaling has devastating effects on human neurodevelopment. The molecular mechanisms underlying TH regulation and action are largely based on animal models. However, animal models are limited in revealing some of the most fundamental aspects of neurodevelopment that are unique to humans. We employed human induced pluripotent stem cell (iPSC) technology to study the effects of T3 on neurodevelopmental processes in a huma...

ea0084ps3-14-128 | Thyroid Cancer CLINICAL 2 | ETA2022

Progrp as an additional screening marker in the diagnostic work up for medullary thyroid carcinoma

Schonebaum Leonoor , van Balkum Mathe , Visser W. Edward , van den Berg Sjoerd , Peeters Robin

Background: Medullary thyroid carcinoma (MTC) is a rare disease accounting for 1-3% of all thyroid carcinomas. Unfortunately, most patients present with metastasized disease: 70% with cervical lymph node metastasis and 5-10% with distant metastasis. Survival strongly correlates with stage of disease at diagnosis, illustrating the need for early diagnosis. Calcitonin is a well-established tumour marker for MTC, but its use in the screening phase is limited by a high rate of fal...

ea0086p164 | Adrenal and Cardiovascular | SFEBES2022

Review of clinical and biochemical characteristics, perioperative management and surgical outcomes in patients undergoing surgery for primary hyperaldosteronism (PHA) at The University Hospital Southampton NHSFT (UHS)

Bray Diane , Bujanova Jana , Richard W Lockyer C , Al-Mrayat Ma'en , Brown Beata , Zarif Nadia

Objective: We reviewed clinical and biochemical characteristics and post-operative outcomes in patients undergoing surgery for PHA in UHS between January 2014 and June 2022 (8.5-year period).Results: 17 patients (41% female, mean age 45y) underwent adrenalectomy for PHA during this period. 5/17 (29%) required admissions related to PHA, 7/17 had blood pressure (BP) of ≥ 200 mmol/Hg, 11/17 (65%) potassium ≤3 mmol/l, 5/17 required ≥ 4 BP a...

ea0086p42 | Endocrine Cancer and Late Effects | SFEBES2022

Hydroxymethylation is dysregulated in pancreatic neuroendocrine tumours and associated with aberrant DNA methylation

English Katherine A , Selberherr Andreas , Shariq Omair A , O'Neill Eric , Lines Kate W , Thakker Rajesh V

Pancreatic neuroendocrine tumours (PNETs) have a lower mutational burden than other tumours, indicating that other mechanisms contribute to tumourigenesis. One such reported mechanism is DNA methylome dysregulation, however, inconsistencies have been observed between gene methylation and protein expression, potentially stemming from the use of standard methylation assessment methods which do not distinguish methylation (5’methylcytosine (5’mC), repressive mark) from ...

ea0086p354 | Neuroendocrinology and Pituitary | SFEBES2022

Primary CNS lymphoma presenting with cranial diabetes insipidus – a case series

Madden Doyle Lauren , Cussen Leanne , McDonnell Tara , O'Reilly Michael W , Agha Amar

Primary CNS lymphoma (PCNSL) accounts for 0.85% - 2.0% of primary brain tumours. PCNSL arises in periventricular regions of the corpus callosum, with hypothalamic involvement less commonly. While cases have been reported in the literature, cranial diabetes insipidus (CDI) secondary to PCNSL is a rare phenomenon. We present this case series of three patients from our institution diagnosed with CDI and panhypopituitarism in the context of PCNSL.Cases: 1. 3...

ea0086p358 | Reproductive Endocrinology | SFEBES2022

The reproductive years: the experience of women attending routine diabetes care

McDonnell Tara , O'Connor Aisling , Cussen Leanne , Madden Doyle Lauren , Forde Hannah , Smith Diarmuid , O'Reilly Michael W.

Reproductive morbidity is increased in women with diabetes, including a higher prevalence of polycystic ovary syndrome, hypothalamic amenorrhoea and premature ovarian failure. Routine discussion of reproductive and menstrual dysfunction for women with diabetes remains a peripheral feature of clinical consultations. Here we aimed to determine women’s own reproductive care experience. We surveyed women of all ages attending routine diabetes care using a detailed clinical qu...

ea0089o11 | Other | NANETS2022

Pheo Para Alliance Patient Centered Research on Challenges for Those with Pheochromocytoma and Paraganglioma

Rose-Krasnor Linda , Alband Stephanie , W. M. Lenders Jacques , Fishbein Lauren

Background: Patients with pheochromocytoma/paraganglioma (PPGL) often face difficulties in obtaining timely and accurate diagnosis, as well as in accessing experienced specialists. However, little is known about the experiences of patients in obtaining effective care.Methods: To address this gap and give voice to the patients, we invited potential participants, through social media, email, and the PheoPara Alliance (PPA) website, to complete a 20-min onl...

ea0090p43 | Calcium and Bone | ECE2023

Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report

Lakshitha de Silva Nipun , Denagama Jayalath Mihiran , W. K. Chaminda Sampath , Perera Ranga , Karunathilake Chandana

Background: Primary hyperparathyroidism which is rare in adolescents presents commonly with non-specific symptoms and systemic complaints. Though there are few reported cases of genu valgus, progression to extensive bone disease with fractures has not been commonly reported. Additionally, hypercalcaemia at the time of presentation was almost universal.Case presentation: A 12-year-old male had been evaluated for bilateral (left > right) genu valgus an...

ea0090ep1062 | Thyroid | ECE2023

Papillary carcinoma of the thyroid in Basedow disease : case report

A Meherzi , S Jemli , E Laabidi , Omri M El , M Bellakhdher , W Kermani , M Abdelkefi

Introduction: The occurrence of Basedow disease does not eliminate the possibility of an associated thyroid cancer. Thyroid carcinoma in Basedow disease is particularly rare (1 to 2%). Most often, it is a papillary carcinoma. This is most often a chance discovery. We report a case of a papillary carcinoma in a Basedow disease taken care of in our department. Case Report : This was a 39-year-old hypertensive diabetic woman followed in endocrinology for Ba...

ea0091wg3 | Workshop G: Disorders of appetite and weight | SFEEU2023

Clinical utility of GnRH analogues in female androgen excess due to severe insulin resistance

Cussen Leanne , McDonnell Tara , Miller Clare , Madden Doyle Lauren , W O'Reilly Michael

Lipodystrophy represents a broad spectrum of disorders, subdivided depending on aetiology (congenital or acquired) or the extent of adipose tissue absence (generalised or partial). A lack of adipose tissue results in systemic insulin resistance and ectopic fat deposition, which predisposes patients to metabolic syndrome and associated conditions such as non-alcoholic fatty liver disease and diabetes mellitus. Additionally, severe hyperinsulinaemia can generate ovarian androgen...