Searchable abstracts of presentations at key conferences in endocrinology

ea0099p502 | Endocrine-Related Cancer | ECE2024

Ovarian neuroendocrine tumor metastases can induce estrogen production in postmenopausal patients

Mulders Merijn , van Velthuysen M F , Roes Eva Maria , Hofland Leo , de Herder Wouter W , Hofland Hans

Background: Neuroendocrine tumors (NET) are malignant neoplasms that can be associated with specific hormonal syndromes. We describe a novel syndrome of postmenopausal vaginal bleeding and ovarian estradiol overproduction due to ovarian NET localizations.Methods: A clinical workup was performed for 2 index patients with ovarian metastases of small bowel neuroendocrine tumors and symptoms of postmenopausal vaginal bleeding. Ovarian tissue was collected af...

ea0090oc9.1 | Oral Communications 9: Adrenal and Cardiovascular Endocrinology 2 | ECE2023

Identification of adrenocortical masses malignancy and aggressivity through radiomics: a pilot study

Tucci Lorenzo , Vara Giulio , Improta Ilaria , Leo Antonio De , Selva Saverio , Balacchi Caterina , Santini Donatella , Mosconi Cristina , Vicennati Valentina , Pagotto Uberto , Dalmazi Guido Di

Background: Adrenal lipid poor adenoma (LPA) and adrenocortical cancer (ACC) may overlap in computerized tomography (CT). Radiomics recently emerged as new tool for malignant behavior identification.Aim: To assess radiomics utility for identification of ACC and LPA in adrenocortical masses with unenhanced (UE) CT scan attenuation≥10 Hounsfield Unit (HU).Methods: We retrospectively enrolled 50 patients, 38 radiologically defin...

ea0066oc4.3 | Oral Communications 4 | BSPED2019

Defects in LGR4 Wnt-β-catenin signalling impair GnRH network development, leading to delayed puberty

Mancini Alessandra , Howard Sasha R , Cabrera Claudia P , Barnes Michael R , David Alessia , Wehkalampi Karoliina , Vassert Gilbert , Cariboni Anna , Garcia Maria Isabelle , Guasti Leonardo , Dunkel Leo

Background: The initiation of puberty is heralded by increasing gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. During embryonic life the GnRH neuroendocrine network develops thanks to a coordinated migration of neurons from the nasal placode to the forebrain. Our group has previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the population and is associated with adverse h...

ea0063oc3.5 | Cushing's and acromegaly | ECE2019

T2-signal intensity, SST receptor expression and first-generation somatostatin analogues efficacy predict hormone and tumor responses to pasireotide in acromegaly

Coopmans Eva C , Schneiders Joppe J , El-Sayed Nour , Muhammad Ammar , Hofland Leo J , Petrossians Patrick , van der Lely Aart. J , JCMM Neggers Sebastian

Background: Previous studies indicate that PAS-LAR can achieve control of insulin-like growth factor I (IGF-I) levels and may reduce tumor size, however a subset of acromegaly patients responds poorly. T2-signal intensity, somatostatin receptor (SST) subtype 2 and 5 expression, and the response to first-generation somatostatin receptor ligands (SRLs) are recognized predictors of therapy response. Valid prediction of the response to PAS-LAR can alter treatment stratification.</...

ea0063gp173 | Obesity (1) | ECE2019

Excellent tumor response to pasireotide therapy in an aggressive and dopamine-resistant prolactinoma

Coopmans Eva , van Meyel Sebastiaan , Pieterman Kay , van Ipenburg Jolique , Hofland Leo , Donga Esther , Daly Adrian , Beckers Albert , van der Lely Aart-Jan , Neggers Sebastian

Background: Prolactinomas are the most frequent secreting pituitary adenomas encountered in the clinical setting. Cabergoline is considered the mainstay medical treatment and transsphenoidal surgery (TSS) is recommended for patients that are medically resistant to dopamine agonist therapy. Resistance to dopamine agonists is commonly defined as failure to normalize prolactin and less than 50% decrease in tumor diameter at a maximal labeled dose of 2.0 mg/week. Pasireotide LAR (...

ea0049ep927 | Pituitary - Basic | ECE2017

Ketoconazole induces inhibition of cell viability and apoptosis in an ACTH-secreting tumour cell line model

Patalano Roberta , Pivonello Claudia , Solari Domenico , Vitulli Francesca , Iacuaniello Davide , Leo Monica De , Negri Mariarosaria , Provvisiero Donatella Paola , Cavallo Luigi Maria , Cappabianca Paolo , Colpo Annamaria , Pivonello Rosario

Chronic cortisol excess as a consequence of ACTH overproduction from a pituitary tumour is responsible for the development of Cushing’s disease (CD). The first-line treatment for CD is pituitary surgery, but medical treatment is an alternative second-line approach to control cortisol excess. Among pharmacological agents, the adrenal-blocking drug ketoconazole (KT), is able to control cortisol excess in the majority of patients with CD. During KT treatment, the adrenal blo...

ea0041gp26 | Adrenal (2) | ECE2016

LCI699 is a potent inhibitor of cortisol production in vitro

Creemers Sara G , Feelders Richard A , de Jong Frank H , Franssen Gaston J H , de Rijke Yolanda B , van Koetsveld Peter M , Hofland Leo J

Introduction: The steroidogenesis inhibitors ketoconazole and metyrapone are frequently used for treatment of Cushing’s syndrome, but can cause side effects. LCI699 is a known 11β-hydroxylase inhibitor, but effects on other steroidogenic enzymes are unknown. We aimed to compare effects of LCI699, ketoconazole, and metyrapone in vitro.Methods: HAC-15 cells, with or without 10 nM ACTH, and three primary human adrenocortical adenoma cultu...

ea0039p1 | (1) | BSPED2015

Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH)

Howard Sasha , Poliandre Ariel , Storr Helen L , Metherell Louise A , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Guasti Leonardo , Dunkel Leo

Background: Self-limited DP often segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine pathophysiology and its genetic regulation remain unclear. By comparison, many genes have been identified where loss-of-function mutations lead to IHH. Despite likely overlap between the pathophysiology of DP and conditions of GnRH deficiency, few studies have examined the contribution of mutations in IHH genes to the phenotype of DP.<p class="a...

ea0037gp.24.02 | Thyroid–genetics | ECE2015

In papillary thyroid cancer TERT promoter mutations have a worst impact on outcome than BRAF mutations

Muzza Marina , Colombo Carla , Proverbio Maria Carla , Rossi Stefania , Tosi Delfina , Perrino Michela , De Leo Simone , Cirello Valentina , Bulfamante Gaetano , Vicentini Leonardo , Fugazzola Laura

TERT promoter mutations (chr5: 1 295 228C>T e chr5: 1 295 250C>T) were recently described in thyroid tumors, with a prevalence ranging 8–25% in papillary thyroid cancer (PTC). We and others reported that these mutations strongly associate with a poor outcome in differentiated thyroid cancers. Aim of the present study was to further investigate the prognostic role of both TERT promoter (TERTMUT) and BRAF<...

ea0037gp.24.05 | Thyroid–genetics | ECE2015

Telomerase reverse transcriptase promoter mutation analysis on thyroid core needle biopsy

Callea Marcella , Crescenzi Anna , Trimboli Pierpaolo , Modica Davide Cicciarella , Taffon Chiara , Guidobaldi Leo , Taccogna Silvia , Rainer Alberto , Trombetta Marcella , Papini Enrico , Zelano Giovanni

Introduction: Among molecular markers proposed to improve diagnosis of thyroid nodules, mutations in telomerase reverse transcriptase (TERT) promoter have been correlated to malignant tumors with highest recurrence and decreased patient’s survival. This suggests an important role of TERT mutational analysis in the clinical diagnosis and management of thyroid cancer patients. In this study, we investigate the potential use of core needle biopsy (CNB) for the preoperative a...