Searchable abstracts of presentations at key conferences in endocrinology
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European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

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The 24th European Congress of Endocrinology (ECE) and the Italian Society of Endocrinology look forward to welcoming you to Milan. ECE 2022 returns for a four day, six parallel session festival of endocrine science. You can join us In person in Milan, Italy OR Live @Home online!

Eposter Presentations

Endocrine-Related Cancer

ea0081ep564 | Endocrine-Related Cancer | ECE2022

Clinical features and survival outcomes of patients with ectopic Cushing’s syndrome: a single-center study

Golounina Olga , Rozhinskaya Liudmila , Arapova Svetlana , Pikunov Michael , Khandaeva Patimat , Fadeyev Valentin , Marova Evgenia , Belaya Zhanna

Objective: To analyze long-term treatment outcomes and to determine prognostic factors affecting the survival of patients with ECS. Matherials and methods: Retrospective, observational study on 147 patients (88 women, 59 men) with ECS diagnosed between 1990 and 2021. Various imaging studies were performed on all patients to find the source of ACTH producing neuroendocrine tumor (NET). Multivariable analysis was performed using a Cox proportional hazards ...

ea0081ep565 | Endocrine-Related Cancer | ECE2022

Analysis and prognostic significance of miRNAs in papillary thyroid carcinoma

Laukienė Romena , Ambrozaityte Laima

Background: Papillary thyroid carcinoma (PTC) is the most frequently occurring endocrine malignancy, with an increasing rate of incidence over the last three decades. Generally, PTC has an excellent prognosis with a relatively low mortality rate, but a small portion of PTC patients suffers from an aggressive form of the disease with tumor invasion and metastasis. Analysis of miRNAs expression data may improve perioperative decision making for patients with PTC. <p class="a...

ea0081ep566 | Endocrine-Related Cancer | ECE2022

Immunotherapy induced glycemic dysregulation - characterization and proposed mechanisms beyond beta-cell autoimmunity

Percik Ruth , Oberman Bernice

Aim: Check-point inhibitors have revolutionized cancer treatment while introducing a new spectrum of immune-related adverse effects. Hyperglycemia is frequently observed shortly after initiation of immunotherapy. While immune-mediated type 1 diabetes mellitus is currently the only defined condition associated with post-immunotherapy hyperglycemia, it includes only a small fraction of cases (an estimated prevalence of 0.5%). This study was aimed to determine factors associated ...

ea0081ep567 | Endocrine-Related Cancer | ECE2022

Association of tissue miRNA (MiR-146b, -21, -221, -222, -181b) expression and the overall survival of papillary thyroid carcinoma patients

Kondrotienė Aistė , Dauksa Albertas , Pamedytytė Diana , Kazokaitė Mintautė , Žvirblienė Aurelija , Daukšienė Dalia , Simanavičienė Vaida , Klimaitė Raimonda , Verkauskienė Rasa , Zilaitiene Birute

Introduction: Improper management of papillary thyroid carcinoma (PTC) patients results in potentially higher fatal outcomes due to a lack of relevant prognostic markers, inadequate periodic individualized risk assessments and/or insufficient initial treatment. MiR-146b, -21, -221, -222, -181b are potential biomarkers for risk stratification in PTC.Aim: The aim of our study was to analyze expression levels of five miRNA molecules (miR-21; miR -221; miR -...

ea0081ep568 | Endocrine-Related Cancer | ECE2022

New insights into armadillo repeat-containing 5 gene: originated in gene mutation, suffering protein property alteration, culminate in function inactivation

Han Minmin , Cao Xiaoming , Lin Xueming , Lv Xiao , Xue Ruizhi , Zhang Chunduo , Chen Bingjun , Zhang Jian , Li Mengnan , Liu Yunfeng

Introduction: As a tumor-suppressor gene, armadillo repeat-containing 5 (ARMC5) gene regulates steroidogenesis and cell apoptosis in manner of second-hit model. Mutations of ARMC5 gene will disturb its normal function, leading to reduced cortisol synthesis and cell apoptosis, which is acknowledged as a frequent cause of primary bilateral macronodular adrenal hyperplasia (PBMAH). Not until another somatic ARMC5 mutation occur in germline mutation carriers, will they manifest as...

ea0081ep569 | Endocrine-Related Cancer | ECE2022

Novel pathogenetic mutation of MEN1 gene causing hyperparathyroidism, pancreatic glucagonoma, adrenal adenoma, and collagenomas

Pitino Rosa , Vimercati Davide , Pizzolitto Francesca , Mollero Edoardo Luigi Maria , Daffara Tommaso , Ferrero Alice , Boldorini Renzo , Caputo Marina , Prodam Flavia

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary autosomal dominant tumor syndrome caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. It is characterized by the occurrence of tumors involving two or more endocrine glands, primarily parathyroid, entero-pancreatic, and anterior pituitary, as well as non-endocrine neoplasms. Glucagonomas occur in fewer than 3% of patients with MEN1, causing hyper...

ea0081ep570 | Endocrine-Related Cancer | ECE2022

Insulinoma in a patient with a crest syndrome

Cornejo Dominguez Jesus Manuel , Gavira Maria Isabel Mateo , Larran Escandon Laura , Rodriguez Maria del Mar Roca , Barea Isabel Torres

Introduction: Insulinomas are pancreatic neuroendocrine tumors (PNET), characterized by insulin hypersecretion syndrome with the development of hypoglycemia. The incidence of the tumor is 3-10 cases per million inhabitants. The average age of onset is 40-50 years old, being more frequent in women. Case Reports: We present a clinical case of a patient with CREST syndrome and difficult-to-control hypoglycemia. Female patient, 81 years old, with a history o...

ea0081ep571 | Endocrine-Related Cancer | ECE2022

Clinical characteristics and survival of a cohort of patients presenting with bone metastases from differentiated thyroid cancer

Gutierrez Ana Pinar , Lluch Ana R. Romero , Disotuar Suset Duen as , De Lara-Rodriguez Irene , Navarro Elena

Introduction: Bone metastases (BM) are rare in differentiated thyroid cancer (DTC). They determine the quality of life and survival of these patients. Our objective was to evaluate the characteristics, survival and prognostic factors of a cohort of patients with BM from CDT.Methods: Retrospective descriptive study. Patients with BM from DTC diagnosed between 1980-2021 were included. Qualitative variables are shown as n(%); quantitative variables as media...

ea0081ep572 | Endocrine-Related Cancer | ECE2022

Clinical case of ACTH ectopic syndrome associated with small cell lung cancer (SCLC)

Kozhemzharova Malika , Bazarova Anna , Kamitbekova Zhanar , Pavlova Natalya , Baisalova Asem

Introduction: Ectopic Cushing’s syndrome (ECS) is a rare disease caused by ACTH secretion by extrapituitary neuroendocrine tumors, characterized by high mortality. Despite the clinical sings of Cushing’s syndrome, difficult access to reliable clinical examinations, leads to a delay in diagnosis and the choice of optimal treatment tactics. Small-cell lung cancer patients with ECS have a very poor prognosis. Case report: A 35-year-old woman ...

ea0081ep573 | Endocrine-Related Cancer | ECE2022

Postoperative prediction of tumor recurrence in patients with nonfunctional pancreatic neuroendocrine tumors

Olearska Helena , Sowa-Staszczak Anna , Opalinska Marta , Kurzyńska Anna , Hubalewska-Dydejczyk Alicja

Introduction: Pancreatic neuroendocrine tumors (pNETs) are a heterogeneous group with various treatment options depending on grading, staging, and presence of symptoms related to hormonal secretion. Their incidence significantly increased over the past decade and nowadays constitutes 30% of all NETs of the gastrointestinal tract. Despite the evidence of a different malignancy potential of PNETs G2, postoperative management is the same in all patients. Ai...

ea0081ep574 | Endocrine-Related Cancer | ECE2022

Pregnandiene-structures coupled with anti-inflammatory moieties as inhibitors of the 5α-reductase activity

Cabeza Marisa , Soriano Juan , Bratoeff Eugene , Heuze Yvonne

Proliferative inflammatory atrophy and prostatic intraepithelial neoplasia are the first signs of prostate cancer. This inflammatory etiology, together with the infiltration of immune cells, could lead to the binding of the cytokines with cancer cells, forming a population that could initiate tumor growth. [1] Androgens also play an essential role in prostate tumor growth, as is well documented. [2] Androgen deprivation therapy is currently the gold standard for hormone-sensit...

ea0081ep575 | Endocrine-Related Cancer | ECE2022

Somatostatin analogues in the treatment of metastatic paraganglioma

Roque Joao , Regala Catarina , Silva Tiago , Leite Valeriano

Introduction: Paraganglioma (PGL) is a neuroendocrine tumor derived from extra adrenal autonomic paraganglia with a germinal mutation rate of 30%. Metastatic paraganglioma (MPGL) can only be predicted after evidence of secondary lesions and it can occur in up to 50% of cases. Clinical course is remarkably variable, but 5-year overall survival is generally around 50%. Treatment options include surgical resection, chemotherapy, radiotherapy, and 123I-MIBG. Being a neu...

ea0081ep576 | Endocrine-Related Cancer | ECE2022

Panhypopituitarism and diabetes insipidus due to metastatic breast cancer

Cuconu Diana , Stancu Cristina , Badiu Corin

We report the case of a 36 years old female, with personal history of breast cancer, treated with neoadjuvant chemotherapy, breast sectorectomy and then chemotherapy and radiation therapy 2 years ago. She was continuously monitored by her oncologist, disease free for over a year, with recent CT scan that showed no particular lessions suggestive for secondary disease. Meanwhile, she got pregnant and delivered at term a healthy baby. She was admitted 3 months postpartum with int...

ea0081ep577 | Endocrine-Related Cancer | ECE2022

Novel steroidal derivatives preventing prostate dihydrotestosterone synthesis

Cabeza Marisa , Carlos Lopez-Lezama Juan , Soriano Juan , Valencia-Islas Norma , Heuze Yvonne

It is well-known that the increase of intraprostatic levels of 5α-dihydrotestosterone is related to the development of prostatic pathologies such as benign prostatic hyperplasia and prostate cancer. So finasteride and dutasteride-based therapies have been used to improve these diseases. These drugs are potent inhibitors of the enzyme 5α-reductase, which is found in the androgen-dependent tissues. This enzyme is responsible for converting testosterone into dihydrotest...

ea0081ep578 | Endocrine-Related Cancer | ECE2022

Genetic novelty in MEN1: about a tunisian family

Fatma Mnif , ARBI Kawthar El , Lajmi Yosra , Zargni Asma , Akid Faten Haj Kacem , Boujelben Khouloud , Salah Dhoha Ben , Charfi Nadia , Mnif Mouna , Majdoub Nabila Rekik , Elleuch Mouna , Kammoun Hassen , Abdelhedi Fatma , Abid Mohamed

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary syndrome that should be considered when different endocrine tumors are associated in an individual or familial context. We report the observation of a Tunisian family, two sisters and a brother.Observations: Patient1: a 31 years old female, followed for multinodular goiter, was hospitalized for a left maxillary tumefaction associated with headache and blurred vision. Investigat...

ea0081ep579 | Endocrine-Related Cancer | ECE2022

Bilateral localization of Leydig tumor in the testicles: Case Report

Outtaleb Fatima Zahra , Alami Amin , Bouchbika Zineb , Benchakroun Nadia , Jouhadi Hassan , Tawfiq Nezha , Sahraoui Souha , Benider Abdellatif , Dehbi Hind

Testicular cancer represents 1% of male tumors. The bilateral testicular tumors are very rare (1 to 2% of cases), with a histological predominance of 90–95% of germ cell tumors. The objectives of this case report are to describe the clinical, paraclinical and the management of a rare neoplasic disease of the testicle; the bilateral Leydig tumor of the testicles. It is a 57-year-old patient with a family history of different neoplasms, including ovarian and breast cancer i...

ea0081ep580 | Endocrine-Related Cancer | ECE2022

Solitary fibrous tumors of the pleura with Doege-Potter syndrome: a case report

Douni Sohail , Elaamadi Wafae , Sabur Safa , Bouchikh Mohammed , Abdellah Achir

Background: Solitary fibrous tumor of the pleura is a rare primary intrathoracic tumor that arises from mesenchymal tissue. Hypoglycemia associated Solitary fibrous tumor of the pleura is referred to as the Doege-Potter syndrome and is caused by inappropriate secretion of an insulin-like growth factor II.Case presentation: We report 70-year-old women with no particular medical history, who present a right chest pain for 1 year with fatigue. The clinical ...

ea0081ep581 | Endocrine-Related Cancer | ECE2022

Localisation of insulinomas : the role of different imaging techniques

Belabed Wafa , Mnif Fatma , Soomauroo Siddiqa , Akid Faten Haj Kacem , Salah Dhoha Ben , Elleuch Mouna , Mejdoub Nabila , Abid Mohamed

Introduction: The diagnosis of insulinomas is made biochemically. However, proper localization of insulinomas is essential before surgery. Therefore, we aimed to evaluate the role of different imaging techniques in the localization of insulinomas. Case series: This case series include 10 patients with biochemically proven insulinomas. The age, gender, results of MRI, CT, EUS, are shown in Table-1. In imaging investigations, abdominal ultrasonography (AU)...

ea0081ep582 | Endocrine-Related Cancer | ECE2022

A personalised approach to tracking circulating cell free tumour derived DNA in a patient with adrenocortical carcinoma

Gohil Shailesh , Page Karen , Hastings Rob , Shaw Jacqui , Levy Miles

Introduction: Adrenocortical carcinoma (ACC) is rare, with an incidence of 0.5-2 cases per million. Although generally aggressive, prognosis is highly variable and difficult to predict. Unlike other malignancies, there are no biomarkers routinely available for use in patients with ACC to help guide management. Circulating cell free tumour derived DNA (ctDNA), the proportion of circulating cell free DNA (cfDNA) originating from tumour cells, is a liquid biopsy that is quickly g...

ea0081ep583 | Endocrine-Related Cancer | ECE2022

Novel peptides and cell lines to expand the tools and models to study the potential of the somatostatin system in NETs

Mangili Federica , Moreno Montilla Maria Trinidad , Salamanca Jimenez Pilar , Garcia Vioque Victor , Encinas Rey Ricardo Blazquez , Alors-Perez Emilia , Mantovani Giovanna , Peverelli Erika , Schrader Jo rg , Ibanez Costa Alejandro , Castano Justo P.

Neuroendocrine tumors (NETs) represent a heterogeneous group of malignancies with increasing incidence worldwide, due in part to enhanced awareness and diagnosis improvements. Surgery is often effective for local disease, whereas disseminated or metastatic disease require pharmacological treatment, which is not always successful. Pancreatic (Pan-NETs) and pulmonary (Lung-NETs) neuroendocrine tumors frequently express somatostatin receptors (SSTs), providing the target for trea...

ea0081ep584 | Endocrine-Related Cancer | ECE2022

Genes involved in chromatin-remodeling complex could alter the regulation of alternative splicing in lungNENs

Agraz-Doblas Antonio , Blazquez-Encinas Ricardo , Garcia Vioque Victor , Alcala Nicolas , Sexton Alexandra , Trinidad Moreno Montilla Maria , Alors-Perez Emilia , salamanca jimenez pilar , Foll Matthieu , Cuesta Lynnette Ferna nez , Ibanez Costa Alejandro , P. Castano Justo

Lung neuroendocrine neoplasms (LungNENs) comprise a diverse group of rare tumors with a commonly difficult and late diagnosis, which often require complex management and treatment. The most frequently mutated genes in LungNENs have recently been identified, including known components of the chromatin-regulating pathways such as MEN1, PSIP1 and ARID1A, which are the subject of ongoing detailed studies. In contrast, other key regulatory mechanisms, par...

ea0081ep585 | Endocrine-Related Cancer | ECE2022

Nonpathogenic variants in genes involved in signalling pathways differ between MEN1 patients with different outcome of pancreatic tumours

Skalniak Anna , Jabrocka-Hybel Agata , Trofimiuk-Muldner Malgorzata , Hubalewska-Dydejczyk Alicja

Background: Although it is well-known that single pathogenic variants in the gene MEN1 are responsible for the development of multiple endocrine neoplasia type 1 (MEN1), the outcome of the disease in individual patients cannot be deduced from known genetic factors, the clinical picture of other family members, nor environmental data. Encouraged by publications suggesting a possible role of the genetic background in MEN1 outcome, we performed a study that aimed at sear...

ea0081ep586 | Endocrine-Related Cancer | ECE2022

Papillary thyroid carcinoma and cervical cancer: what is the link?

Abidi Ihssane , Rifai Kaoutar , Hinde Iraqi , Gharbi Mohamedelhassan

Introduction: Papillary thyroid carcinoma is the most common form of thyroid cancer. It is differentiated, slow growing and usually has a good prognosis. Its risk factors are not all identified; we note exposure to radiation, particularly ionising radiation, and certain genetic mutations which are currently being explored. The aim of our work is to study the relationship between papillary thyroid carcinoma and cervical cancer.Observation: We report the c...

ea0081ep587 | Endocrine-Related Cancer | ECE2022

Poor outcome of systemic therapy in secondary high-grade pancreatic neuroendocrine tumors

Mollazadegan Kazhan , Skogseid Britt , Botling Johan , AEkerstrom Tobias , Eriksson Barbro , Welin Staffan , Anders Sundin , Crona Joakim

Introduction: Longitudinal changes in pancreatic neuroendocrine tumor (panNET) cell proliferation correlate with fast disease progression and poor prognosis. The optimal treatment strategy for secondary panNET grade (G)3, that has progressed from a previous low- or intermediate-grade to high-grade panNET G3 is currently unknown. Methods: This was a single center retrospective cohort study, aimed to characterize treatment patterns and outcomes among patie...

ea0081ep588 | Endocrine-Related Cancer | ECE2022

Severe refractory nonislet cell tumor hypoglycemia and paraneoplastic hypercalcemia in a patient with pancreatic adenocarcinoma with neuroendocrine differentiation: a case report.

Rossini Giovanni , Tommaso Alfonso Maria Di , Rausa Donatella , Palermo Andrea , Tuccinardi Dario , Pozzilli Paolo , Napoli Nicola , Manfrini Silvia

Nonislet cell tumor hypoglycemia (NICTH) is a rare complication of malignancy characterized by overproduction of incompletely processed IGF-2 and subsequent stimulation of insulin receptors and increased glucose utilization. We report a patient with pancreatic adenocarcinoma with neuroendocrine differentiation who presented with NICTH and paraneoplastic hypercalcemia. A 51 year-old male was admitted to the ER for altered mental status and confusion. His blood glucose was 27 mg...

ea0081ep589 | Endocrine-Related Cancer | ECE2022

Hyperandrogenism due to ovarian stromal hyperthecosis in a woman known with PCOS

Rosu Andreea , Ambăruş - Popovici Ioana , Chiriac Bianca , Blesneac Ilona - Beatrice , Proţop Mădălina , Patraşcu Ana-Maria , Scripcariu Viorel , Preda Cristina

Introduction: Ovarian hyperthecosis (OH) is a rare condition, reported only in case reports and small case series and is characterized by severe hyperandrogenism leading to virilisation and insulin resistance. The term hyperthecosis refers to the presence of luteinized thecal cells within a hyperplastic ovarian stroma and the pathophysiology of this remains poorly understood. Despite the fact that hyperandrogenism is a relatively common clinical problem, severe hyperandrogenis...

ea0081ep590 | Endocrine-Related Cancer | ECE2022

Pheochromocytomas and paragangliomas-real world data in a tertiary Greek center

Thanasoula Foteini , Angelousi Anna , Kyriakopoulos Georgios , Yavropoulou Maria , Kassi Evanthia , Kaltsas Gregory

Purpose: Pheochromocytomas (PCs) and paragangliomas (PGLs) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and the sympathetic/parasympathetic neural ganglia, respectively. Metastatic PCs/PGLs occur in about 5-26% of cases. Their management and diagnosis still remain a challenge due to their heterogeneity, the absence of guidelines and the few prognostic tools.Aim: The aim of this study was to describe clinical and gen...

ea0081ep591 | Endocrine-Related Cancer | ECE2022

Atypical presentation of recurrence following previous resected Primary Parathyroid Carcinoma- dilemmas in follow up of this rare malignancy

Khan Haris , Nawaz Maimoona , Malik Isha

Introduction: Parathyroid cancer is a rare endocrine malignancy and constitutes 0.005% of all cancers. It can recur in 50% of cases. The first recurrence commonly occurs within 3 years of the original diagnosis. Hypercalcaemia is the main cause of morbidity and mortality. We present a case of a 62-year-old male patient who had an atypical lung nodule recurrence with normal calcium and PTH levels, six years following resection of a functioning parathyroid cancer.<p class="a...

ea0081ep592 | Endocrine-Related Cancer | ECE2022

Pheochromocytoma associated with type 1 neurofibromatosis

Sara Chtioui , Boukhalfa Ahmed , Sanaa Rafi , Mghari Ghizlane EL , Ansari Nawal EL

Introduction: Compared to normal population, patients with neurofibromatosis are at higher risk for the development of benign and malignant tumors. Pheochromocytomas are relatively rare in neurofibromatosis type 1 (NF1), and malignant ones are even rarer.Aim of the presentation: Our aim was to report a malignant pheochromocytoma with multiple metastases in a patient with NF1.Case report: A male patient aged 23 years old, with lapar...

ea0081ep593 | Endocrine-Related Cancer | ECE2022

An analysis of blood parameter changes in cushing's syndrome - a population-based study

Mangion Jessica , Imbroll Miriam Giordano , Craus Sarah , Vassallo Josanne , Gruppetta Mark

Aim: Glucocorticoids play a significant role in inflammation and immune system disruption. Our study aimed to analyse different biochemical and blood count indices and serum inflammation-based scores in patients with all different causes of endogenous Cushing’s Syndrome (CS) in a well-defined population.Methods: Clinical records of 35 patients diagnosed with CS between 2008 and 2020 at the only central national health service hospital in Malta, were...

ea0081ep594 | Endocrine-Related Cancer | ECE2022

New CDKN1b mutation in multiple endocrine neoplasia type 4 and brief literature review on clinical management.

Brunetti Alessandro , Lavezzi Elisabetta , Bertuzzi Alexia , Nappo Gennaro , Laffi Alice , Pedicini Vittorio , Vitali Eleonora , Trivellin Giampaolo , Mazziotti Gherardo , Lania Andrea

Background: The fourth type of Multiple Endocrine Neoplasia (MEN) is a rare variant of MEN presenting a MEN1-like phenotype and originating from a germline mutation in CDKN1B. However, due to the small number of cases documented in literature, the peculiar clinical features of MEN4 are still largely unknown, and clear indications about the clinical management of these patients are currently lacking. In order to enlarge our knowledge on MEN4 and to better typify the clinical fe...

ea0081ep595 | Endocrine-Related Cancer | ECE2022

Severe psychosis: think of adrenocortical carcinoma

Rifai Kaoutar , Guissi Loubna , Ghaffour Wahiba , Iraqi Hind , Gharbi Mohamed Elhassan

Introduction: Adrenocortical carcinoma (AC) is a rare malignant endocrine tumor of the adrenal cortex. The psychiatric manifestations observed in AC are associated with a delayed diagnosis.Case presentation: A 27-year-old women with medical history of severe psychosis resistant to antipsychotic medications, was hospitalized in our unit for Cushing’s syndrome (CS). The physical examination revealed classical signs of CS. The Laboratory results showed...

ea0081ep596 | Endocrine-Related Cancer | ECE2022

A case of asymptomatic Pheochromocytoma with high risk of malignancy

Marecek Renata , Felicia Baleanu , Georgiana Taujan , Blerta Papadopoulou , Olga Kosmopoulou , Mihaela Rosu , Sebastian Dobos , Laura Iconaru

Introduction: The classical triad of pheochromocytoma comprises paroxystic headache, palpitation, and diaphoresis. It is a common cause of secondary hypertension. Glycemic abnormalities are not rare. Hyperglycemia and diabetes can be the presenting features of pheochromocytoma. However, cases of hypoglycemia are also described. Malignant tumors account for about 10% of cases.Case description: In this report, we present a case of a 41-year-old man referre...

ea0081ep597 | Endocrine-Related Cancer | ECE2022

Levels to designate progressive increase in aggressiveness of medullary thyroid cancer depending on the identified mutations in the Republic of Belarus

Dydyshka Yuliya , Shepelkevich Alla , Kondratovich Victor , Leonova Tatiana , Subach Alena , Portyanko Anna , Gradusha Andrey , Sosedkova Alexandra

Background: The recommended method of initial testing for MEN2A is either a single or multi-tiered analysis to detect RET mutations in exon 8, 10, 11, 13, 14, 15, and 16.The aim of the study was to determine the relationship between the aggressiveness of the clinical course of MTC and identified mutations.Materials and methods: The research is carried out of the program ‘To develop and implement effective technologies for the ...

ea0081ep598 | Endocrine-Related Cancer | ECE2022

Choroidal metastasis from follicular thyroid carcinoma: a case report

Affes Sofien , Saloua Ben Amor , Mona Rekik , Sehli Mariem , Sonda Kammoun , Amira Trigui

Introduction: Choroidal metastases are among the most common malignant ocular tumors. In the majority of cases, their origin is pulmonary in men and mammary in women. We present a rare case of choroidal metastasis from a vesicular thyroid carcinoma.Case presentation: A 35-year-old woman presented to our department complaining of progressive vision reduction in the right eye. Six years previously, she was operated for vesicular carcinoma of the thyroid wi...

ea0081ep599 | Endocrine-Related Cancer | ECE2022

Co-secretory ACTH & Calcitonin tumor presented with refractory hypokalemia

Sharma Bhavna , Joshi Pratichi , Fatima Anees , Lakha Meena , Hamdulay Shahir , Hui Elaine

81-year-old ex-smoker presented to emergency with transient facial droop, slurring of speech and generalized weakness. He had a background of ischemic heart disease, hypertension, and previous bladder cancer (treated 5 years ago). Examination revealed clinical signs of hypocalcaemia with no cushingoid features. Bloods revealed refractory severe hypokalemia, severe hypocalcaemia with normal phosphate, and metabolic alkalosis requiring High dependency Unit.<p class="abstext"...

ea0081ep600 | Endocrine-Related Cancer | ECE2022

Sporadic metastatic pancreatic neuroendocrine tumor in a young patient

Mitrache Marius-Lucian , Martin Carmen Sorina , Nitipir Cornelia , Fica Simona

Background: Pancreatic neuroendocrine neoplasms (NENs) are rare tumors which can sometimes be diagnosed based on symptoms of hormone excess, but, more often, they are asymptomatic, and patients frequently present with metastatic disease. While they can occur in hereditary cancer syndromes such as multiple endocrine neoplasia type 1 (MEN1), von Hippel-Lindau (VHL), or neurofibromatosis (NF1), the majority of pancreatic NENs are sporadicCase report: We rep...

ea0081ep601 | Endocrine-Related Cancer | ECE2022

Hypercalcaemia in a woman with systemic lupus erythematosus: don't miss the diagnosis of gastric neuroendocrine tumor!

Massanou Selma , Kefi Asma , Abdelghani Khaoula Ben , Euch Mounira El , Sassi Syrine , Turki Sami , Abderahim Ezzedine

Introduction: Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disease with heterogeneous presentation. SLE can be associated with autoimmune diseases or other entities sush as neuroendocrine tumors (NET). The occurrence of gastric NET in SLE is very rare and has been described few times in the literature. Herein we report the case of SLE woman, in whom we discovered a gastric neuroendocrine tumor. Observation: A 68-year-old woman, ...

ea0081ep602 | Endocrine-Related Cancer | ECE2022

Ectopic Cushing's syndrome due to metastatic lung carcinoid presenting on a background of DIPNECH

Moreno Telma , Ribeiro Sara , Varela Ana , Freitas Paula , Carvalho Davide

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a relatively recent and rare disease, frequently misdiagnosed. It is characterized as a generalized proliferation of pulmonary neuroendocrine cells and is recognized as a precursor lesion for pulmonary neuroendocrine tumors, although the risk of progression to malignancy is considered low. Here we report a patient with ectopic ACTH-dependent Cushing’s syndrome due to metastatic lung carcinoid tumors...

ea0081ep603 | Endocrine-Related Cancer | ECE2022

Multiple endocrine neoplasia type 1: A case report

Adel Meriem , Nacef Ibtissem Ben , Besrour Chayma , Mekni Sabrine , Smadhi Houaida , Lakhoua Youssef , Mchirgui Nadia , Rojbi Imen , Khiari Karima

Introduction: Multiple endocrine neoplasia (MEN1) is a rare underdiagnosed inherited multi-tumor syndrome, affecting neuroendocrine and non-endocrine tissues. Its aspects are extremely variable with no genotype-phenotype correlation.Case report: A 57 year old woman with a history of hypertension, presented five months before her admission with asthenia, headache and vomiting, initial biological exams revealed a central hypothyroidism. A pituitary MRI sho...

ea0081ep604 | Endocrine-Related Cancer | ECE2022

Metachronous germ cells and sex cords ovarian tumors in an adolescent girl : Hormone replacement therapy at what cost ?

Fatma Mnif , Zargni Asma , Arbi Kawthar El , Salah Dhoha Ben , Elleuch Mouna , Charfi Nadia , Mnif Mouna , Majdoub Nabila Rekik , Akid Faten Haj Kacem , Abid Mohamed

Introduction: Gonadal tumors are rare in children. Because surgery is the primary treatment for ovarian tumors, ovarian salvage with fertility preservation and use of a minimally invasive surgical technique are important in children and adolescents. We report the case of an adolescent girl who was referred after bilateral annexectomy. Observation: This is a 14-year-old girl who just had her first menses. She has been followed the last year for an ovarian...

ea0081ep605 | Endocrine-Related Cancer | ECE2022

The combination of medullary thyroid carcinoma and sporadic clear cell renal cell carcinoma: coincidence or new syndrome?

Abidi Ihssane , Rifai Kaoutar , Hinde Iraqi , Gharbi Mohamedelhassan

Introduction: COVID-19 is a pandemic related to SARS-COV-2 virus infection. It is most often manifested by an influenza-like syndrome with other symptoms that are more specific such as loss of smell and taste. Its severity is highly variable, ranging from asymptomatic to severe or prolonged forms. We report the case of a 47-year-old female patient, who is being followed for hypoparathyroidism, who developed severe and persistent cramps after the COVID-19 vaccine.<p class="...

ea0081ep606 | Endocrine-Related Cancer | ECE2022

Multiple endocrine neoplasia type 2: About two Tunisian patients

Fatma Mnif , Arbi Kawthar El , Missaoui Abdelmouhaymen , Akid Faten Haj Kacem , Belabed Wafa , Salah Dhoha Ben , Charfi Nadia , Mnif Mouna , Majdoub Nabila Rekik , Elleuch Mouna , Abid Mohamed

Introduction: Multiple endocrine neoplasia type 2 (MEN2) is a rare inherited disease characterized by the occurrence of medullary thyroid cancer (MTC) either isolated or associated with pheochromocytoma, primary hyperparathyroidism (PHP), or typical morphological features. Thus, we report two cases.Patient(1): A 27-year-old female patient with a marfanoid appearance, had a histologically confirmed conjunctival and mucosal ganglioneuromatosis, bilateral c...

ea0081ep607 | Endocrine-Related Cancer | ECE2022

Multiple endocrine neoplasia type 1: A puzzle that builds over the years

Fatma Mnif , Arbi Kawthar El , Lajmi Yosra , Zargni Asma , Akid Faten Haj Kacem , Frikha Hamdi , Salah Dhoha Ben , Charfi Nadia , Mnif Mouna , Majdoub Nabila Rekik , Elleuch Mouna , Kammoun Hassen , Abdelhedi Fatma , Abid Mohamed

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a genetic disease that predisposes to the development of both hyperplastic and tumorous lesions of the endocrine glands, in particular parathyroid, pancreatic and pituitary. Thus we report our case.Observation: An 18-year-old male patient was hospitalized for severe hypoglycemia mistakenly treated as epileptic seizures. The etiological investigation concluded to a benign multiple insulinoma, con...

ea0081ep608 | Endocrine-Related Cancer | ECE2022

Clinical case: MEN1 syndrome

Meskinyte Ieva , Cyrolyte Saule , Strazdiene Igne , Urbonaviciute Egle , Klimaite Raimonda , Jakubonienė Neli

Introduction: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare, autosomal dominantly inherited syndrome that causes tumors of the endocrine glands [1]. This syndrome is most commonly associated with neuroendocrine tumors of the parathyroid glands, pituitary gland and pancreas [2].Case: A 30-year-old woman was admitted to the Hospital of Lithuanian University of Health Sciences, Kaunas Clinics for unconsciousness and significant hypoglycaemia: 1.0 - 3...

ea0081ep609 | Endocrine-Related Cancer | ECE2022

Diagnostic and evolutionary profiles of adrenocortical tumor, about 30 cases

Chabour Fadila , Mimouni Safia

Adrenocortical tumor is a rare malignant tumor of adrenal location. With a poor prognosis that can be improved by rapid diagnosis and adequate early management, hence the importance to evoke this etiology in front of any atypical adrenal mass or any suggestive clinical or biological context. The objective of our modest work is to report through a retrospective study the profile of adrenocortical tumors treated in our service over a period of 13 years from 2007 to 2020. Thirty ...

ea0081ep610 | Endocrine-Related Cancer | ECE2022

Insulinoma with confusing imaging : a case report

Belabed Wafa , Mnif Fatma , Missaoui Abdelmouhaymen , Salah Dhoha Ben , Akid Faten Haj Kacem , Mouna Elleuch , Mnif Mouna , Charfi Nadia , Mejdoub Nabila , Abid Mohamed

Introduction: Insulinoma is a rare pancreatic tumor. It is the most frequent cause of organic hypoglycemia due to endogenous hyperinsulinism.Case report: A 55-year-old woman was admitted in our department for the management of a recurrent hypoglycemic coma. Endogenous hyperinsulinic hypoglycemia was confirmed with a spontaneous hypoglycemia. Plasma blood glucose was 0.25 g/l concomitant to a high insulinemia of 31.5 µUI/ml (≥ 3) and C-peptide ...

ea0081ep611 | Endocrine-Related Cancer | ECE2022

Insulinoma : a single-center retrospective analysis of 10 cases

Belabed Wafa , Mnif Fatma , Missaoui Abdelmouhaymen , Salah Dhoha Ben , Elleuch Mouna , Akid Faten Haj Kacem , Mejdoub Nabila , Abid Mohamed

Introduction: Insulinoma is a rare neuroendocrine tumor with an incidence of 1 to 4 per million person-years. It is the most frequent endocrine tumor of the pancreas and is revealed by a spontaneous hypoglycemia. This study aimed to determine the clinical characteristics, diagnostic workup, and outcome of patients with insulinoma.Methods: This is a descriptive, retrospective study including patients with confirmed insulinoma collected over a 32-year peri...

ea0081ep612 | Endocrine-Related Cancer | ECE2022

Renal cell carcinoma revealed by acute adrenal insufficiency

Abadlia Salma , Najla Bchir , Chadia Zouaoui , Raddadi Sarra , Ouertani Haroun

Introduction: Renal cell carcinoma (RCC) is the most common type of malignant renal tumors in adults. It is often difficult to detect it precociously since early-stage renal tumors are usually asymptomatic and non-palpable. We report a case of RCC revealed by acute adrenal insufficiency (AAI).Case report: Mr. A.B, 46 years old, 30 pack-year smoker, with a medical history of gout treated with Allopurinol, was admitted to our department for acute adrenal i...

ea0081ep613 | Endocrine-Related Cancer | ECE2022

Abstract Withdrawn...

ea0081ep614 | Endocrine-Related Cancer | ECE2022

Clinical and pathological features and phenotype-genotype correlation of pheochromocytoma and paraganglioma in a highly consanguineous population

Alghamdi Balgees , Alswailem Meshael , Alzahrani Ali

Context: Pheochromocytoma and Paragangliomas (PPGL) are rare neuroendocrine tumors with a strong genetic background. In this report, our objectives are to understand the molecular genetics and the genotype/phenotype correlation of these tumors in the highly consanguineous population of Saudi Arabia. Patients and methods: We studied 88 patients with PPGL and no known family history of these tumors. We extracted DNA from peripheral leucocytes and performed...

ea0081ep615 | Endocrine-Related Cancer | ECE2022

Frequency of CYP1B1 gene polymorphism in obese and non-obese women with hormone-dependent endometrial cancer

Ilic Dusan , Ognjanovic Sanja , Popovic Bojana , Elezovic Valentina , Opalic Milica , Radic Lena , P. Macut Djuro

Aim: There is a significant link between the increased activity of estrogen and its metabolites in endometrial carcinogenesis. Polymorphisms of the gene involved in metabolism of estrogen can modulate risk for the development of endometrial cancer. CYP1B1 plays an important role in estrogen metabolism. In our study, the frequency of three CYP1B1 gene polymorphisms (4326 C> G, 4390 A> G and 355 G> T) were studied in obese and non-obese women with endometrio...

ea0081ep616 | Endocrine-Related Cancer | ECE2022

Ectopic parathyroid adenoma of the recurrent laryngeal nerve (RLN) chain lymph node

Guissi Loubna , Abdillahi Mohamed Hamid , Azriouil Manal , Rifai Kaoutar , Iraqi Hind , Gharbi Mohamed Elhassan

Introduction: Parathyroid adenoma can be localized in an ectopic situation, especially at the mediastinal level. The localization at the level of the RLN chain lymph node has not been reported yet.Case presentation: A 67-year-old woman without clinical signs of hyperparathyroidism, having undergone a left isthmolobectomy for a thyroid nodule suspected of being malignant, with intraoperative discovery of lymphadenopathy of the left RLN chain lymph node. T...

ea0081ep617 | Endocrine-Related Cancer | ECE2022

Metastatic medullary thyroid carcinoma with diagnostic and therapeutic challenges: a case report

Asbar Hind , Ouakrim Hind , Rafi Sana , MGHARI Ghizlane EL , Ansari Nawal EL

Introduction: Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor that arises from the parafollicular C-cells of the thyroid gland with a tendency to regional and distant metastases. It is a rare tumor, making up about 3% of all thyroid malignancies. MTC occurs in both heritable and sporadic forms, early diagnosis is important as it can improve treatment outcomes. We report a case of metastatic medullary thyroid cancer with both diagnostic and therapeutic challenges. <...

ea0081ep618 | Endocrine-Related Cancer | ECE2022

Pro-inflammatory biomarkers in Papillary thyroid cancer

Bangaraiahgari Ramesh , Panchangam RAmakanth Bhargav , Bangaraiahgari Rajesh , U Udaya Kumar , Mayilvaganan Sabaretnam

Introduction: Papillary thyroid carcinoma (PTC) is the most frequent endocrine malignancy. Apart from genetics, autoimmunity has been implicated in its pathogenesis. In this context, we set out study the role of Pro- inflammatory cytokines in PTC in South Indian population.Material and methods: This prospective case-control study was conducted on surgically managed PTC patients. Institutional ethical committee approval was obtained. Diagnosis of PTC was ...

ea0081ep619 | Endocrine-Related Cancer | ECE2022

The different faces of a long-lasting metastasized pancreatic neuroendocrine tumor with calcitonin paraneoplastic secretion and cardiac carcinoid

Ilinca Diculescu Rucsandra , Burcea Iulia Florentina , Dumitrascu Anda Simona , Boldeanu Cosmin , Iftimie Madalina- Elena , Poiana Catalina

Introduction: Besides medullary thyroid carcinoma (MTC), increased calcitonin serum concentrations may be due, rarely, to neuroendocrine tumour (NET) ectopic secretion, especially those of the foregut (pancreatic/lung). Patients with NETs and right-sided heart failure due to cardiac carcinoid have a worse prognosis than those presenting without. Case presentation: We present the case of a 72-year-old female with a history of an initially considered well-...

ea0081ep620 | Endocrine-Related Cancer | ECE2022

A NEM 2A with mutation in a gene outside panel ROTERC

Abdellahi Mohamed Ahmed Mohamed , Mejdoub Nabila , Souhir Guidara , Salah Dhoha Ben , Mnif Mouna , Akid Faten Haj Kacem , Abid Mohamed

Introduction: Multiple endocrine neoplasia type 2 is an inherited syndrome characterized by the characteristic combination of medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism. We report one case with phenotype-genotype mismatch.Observation: Patient A. T is 45 years of age with a family history of thyroid bone marrow cancer (CMT) and sister brain cancer, father colon cancer, with no personal history of disease. A 60 mm long-axis ...

ea0081ep621 | Endocrine-Related Cancer | ECE2022

Medullary thyroid Cancer, an experience from a tertiary care hospital of a developing country

Ali Khan Sajjad , Aziz Abdul , Esbhani Umer Arif , Masood Muhammad Qamar

Background: Medullary thyroid carcinoma is a rare type of thyroid cancer that is either sporadic or familial. It occasionally occurs alongside parathyroid hyperplasia and pheochromocytoma as part of MEN2A. Our aim was to study the presence and patterns of above mentioned characteristics of medullary thyroid carcinoma in our population.Methodology: This is a retrospective study conducted in a tertiary care hospital of Pakistan in which data of medullary t...

ea0081ep622 | Endocrine-Related Cancer | ECE2022

Refractory papillary thyroid carcinoma treated with sorafenib: an Algerian experience

Bouchenna Amira , Tibouk Abdelghani , Brahim Ghennam , Samia Ould Kablia

Introduction: 5-10% of papillary thyroid carcinoma develop metastatic disease, of which about 60-70% will become refractory to radioactive iodine. Significant negative impact on the prognosis and an average life expectancy of 3 to 5 years.Material and method: Since 2018, patients with refractory thyroid carcinoma and considered to be progressive according to the RECIST criteria have been treated with anti tyrosine Kinase type sorafenib.<p class="abst...

ea0081ep623 | Endocrine-Related Cancer | ECE2022

Hungry bone syndrome in the post-operative management of severe primary hyperparathyroidism: a case report

Guissi Loubna , Azriouil Manale , Gorgi Khawla , Rifai Kaoutar , Iraqi Hind , Gharbi Mohamed Elhassan

Introduction: Hungry bone syndrome (HBS) is a rare complication of parathyroidectomy for primary hyperparathyroidism. We report a case of HBS after parathyroid surgery for severe primary hyperparathyroidism.Case presentation: A 46-year-old woman was admitted with generalized weakness and difficulty walking due to progressive worsening of low-back pain. Clinical examination revealed tachycardia at 110 bpm and chest deformity. Laboratory results revealed h...

ea0081ep624 | Endocrine-Related Cancer | ECE2022

A rare case of gonadotropin independent precocious puberty in young child

Kumar Ega Lakshman , Sahay Rakesh , Kudugunti Neelaveni

Introduction: Adrenocortical carcicnoma (ACC) is a rare malignancy with overall incidence of 0.7–2.0 cases/million. It’s a rare & aggressive childhood cancer with a reported incidence of 0.2– 0.3 new cases per 1 million. It has Bimodal distribution - at first decade - 85% functional & 5-6th decade of life 15-30% functional. Paediatric virilising adrenal tumours have a better prognosis after complete resection than in adults. Surgery is the mai...