Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep1059 | Thyroid | ECE2023

An unexpected discovery of MEN 2B Syndrome in an adolescent - a case report

Manole Tiberiu , Buduluca Larisa , Schipor Sorina , Muresan Andrei , Gherlan Iuliana

Introduction: Multiple Endocrine Neoplasia Syndrome 2B (MEN 2B) is a very rare genetic disorder which affects the thyroid and the adrenal glands, the development of mucosal neuromas and the general appearance of the patient’s body. Therefore, we can encounter Medullary Thyroid Carcinomas (MTC), adrenal sympathetic paragangliomas (or Pheochromocytomas) and habitus Marfanoid. The disease represents a challenge for every clinician, especially if it occurs in a child.<p c...

ea0090p507 | Thyroid | ECE2023

Prevalence and clinico-pathological correlations of BRAF V600E and TERT promoter mutations in differentiated thyroid cancer in Romania

Dobrescu Ruxandra , Schipor Sorina , Muresan Andrei , Ioachim Dumitru , Goldstein Andrei , Manda Dana , Vladoiu Suzana , Badiu Corin

Background: Differentiated thyroid cancer (DTC) encompases a wide spectrum of disease from clinically insignificant micro-tumors to aggressive cancers. The molecular signature can be used to predict tumor behaviour, and the co-existence of BRAF and TERT promoter mutations has been identified as a marker of adverse prognosis, but we have yet no available molecular data for the Romanian population.Objectives: To determine the prevalence of BRAF V600E and T...

ea0090ep612 | Endocrine-related Cancer | ECE2023

A new pathogenic variant of MEN 1 gene causing pituitary, pancreatic, parathyroid, adrenal and middle ear neuroendocrine tumors

Schipor Sorina , Stancu Cristina , Stanca Oana , Muresan Andrei , Gherghe Mirela , Badiu Corin

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by germline mutations of MEN1 gene, without genotype–phenotype correlation. It is defined as the occurrence of two or more primary neuroendocrine tumors (parathyroid, enteropancreatic, pituitary), or the occurrence of one of the MEN1-associated tumors in family members of a patient with a clinical diagnosis of MEN1. Multiple parathyroid tumors with hyperparathyroidism are the most common m...

ea0090ep652 | Endocrine-related Cancer | ECE2023

Different phenotype of familial RET mutation in 2 patients: Medullary thyroid carcinoma and Adrenal Paraganglioma

Naglabeala Laura , Milicescu Alexandra , Galoiu Simona , Braha Elena , Muresan Andrei , Ioachim Dumitru , Ghemigian Mircea , Poiana Catalina

Introduction: RET proto-oncogene is situated on chromosome 10 and encodes a tyrosine kinase receptor. A germline mutation of RET leads to the appearance of MEN 2 syndrome or familial medullary thyroid carcinoma (MTC). One of the most common germline mutation occurs in codon 634. Pheochromocytoma penetrance for codon 634 mutation was demonstrated to increase with age up to 88% by age 77 years.Aim: To present two familial cases of RET mutation illustrating...

ea0063p1182 | Thyroid 3 | ECE2019

Cured medullary thyroid carcinoma after surgical treatment: does initial presentation matters?

Smarandoiu Georgiana Alexandra , Trifanescu Raluca , Popa Oana , Muresan Andrei , Gherghe Mirela , Poiana Catalina

Background: Surgery is the standard treatment in patients with medullary thyroid carcinoma (MTC), 43% being biochemically cured postoperative in a large series, the most important prognostic factor being the stage of the disease.Material and methods: We present 3 cases of biochemical cured patients after surgery with different preoperative presentation. Calcitonin and carcinoembryonic antigen (CEA) were measured by chemiluminescence. Histological examina...

ea0099ep971 | Endocrine-Related Cancer | ECE2024

Secondary amenorrhea – an inconspicuous presentation of sporadic MEN1 syndrome

Monalisa Preda-Ivascu , Iorgulescu Radu , Schipor Sorina , Muresan Andrei , Braha Elena , Radian Serban , Poiana Catalina

Introduction: The MEN1 syndrome is caused by inactivating mutations of MEN1, a tumor suppressor gene encoding menin. A sporadic presentation is relatively rare (8-14%) and could be due to de novo mutations.Aim: To present an MEN1 case diagnosed following a routine consultation for amenorrheaCase presentation: A 44-year-old female presented with secondary amenorrhea and a history of complicated renal lithiasis requiring rep...

ea0090ep1035 | Thyroid | ECE2023

Graves’ Disease Hiding Metastatic Papillary Thyroid Carcinoma - case report-

Musat Madalina , Septar AIlin , Boanta Roxana , Goldstein Andrei , Terzea Dana , Ioachim Dumitru , Schipor Sorina , Muresan Andrei , Niculescu Dan , Elian Viviana

The coexistence of Graves disease (GD) and thyroid carcinoma used to be considered uncommon, but association between the two is being progressively acknowledged. Case report: We present the case of a 69-year-old woman with a 10 year history of GD who was referred to our clinic for fatigue, sweating, palpable cervical mass and weight loss. She was treated only in the previous 5 months with block and replace therapy. Laboratory workup at admission showed s...

ea0063p1133 | Reproductive Endocrinology 2 | ECE2019

Serum anti-Müllerian hormone is significantly associated with higher luteinizing hormone level in polycystic ovary syndrome

Baculescu Nicoleta , Leonte Laura , Radian Serban , Gheorghiu Monica , Muresan Andrei , Biban Bianca , Baleanu Maria , Grigorescu Florin , Poiana Catalina

Background: Recent data highlight the role of anti-Müllerian hormone (AMH) to trigger the neuroendocrine abnormalities involving GnRH and secretion of gonadotropins in polycystic ovary syndrome (PCOS).Aim: To study factors significantly correlated with neuroendocrine dysfunction in PCOS, with focus on AMH.Subjects and methods: We performed a cross-sectional study in 137 patients with PCOS selected by Rotterdam 2003 criteria an...

ea0093p3 | Guided Poster Tour 1: Adrenal and Neuroendocrine tumors | EYES2023

MEN 2 syndrome heterogeneity in a cohort of Romanian patients

Manole Tiberiu , Baciu Ionela , Galoiu Simona , Baculescu Nicoleta , Niculescu Dan , Radian Serban , Muresan Andrei , Braha Elena , Poiana Catalina

Background: Multiple endocrine neoplasms (MEN) are a rare hereditary syndrome, caused by an autosomal dominant mutation due to germline mutation in the rearranged during transfection (RET) proto-oncogene. According to the new WHO guidelines, MEN type 2 (formerly known as MEN 2A) is characterised by medullary thyroid cancer (MTC), paragangliomas, primary hyperparathyroidism (PHP) and cutaneous lichen amyloidosis.Objectives: To present the clinical and par...

ea0099rc3.7 | Rapid Communications 3: Adrenal and Cardiovascular Endocrinology | Part I | ECE2024

Factors that influence pheochromocytoma penetrance in MEN2A Syndrome

Lider-Burciulescu Sofia-Maria , Gheorghiu Monica Livia , Muresan Andrei , Laura-Semonia Stanescu , Dumitras¸cu Anda , Badiu Corin

Introduction: It is known that phaeochromocytoma penetrance in MEN2A syndrome steadily increases with age. In general, MEN2A related pheochromocytomas (PHEOs) have a benign evolution; however, some of them have an aggressive behaviour despite the same genetic background as the benign forms.Aim: To evaluate potential factors that may influence PHEO penetrance and tumor dimensions (age at diagnosis, MTC aggressiveness or genetic status).<p class="abste...