Searchable abstracts of presentations at key conferences in endocrinology

ea0084ps2-06-48 | Hypothyroidism Treatment | ETA2022

Pseudomalabsorption of levothyroxine: munchausen’s syndrome, compliance defects or fraud?

Campi Irene , Carrara Silvia , Federici Silvia , Trevisan Matteo , Persani Luca , Fugazzola Laura

Objectives: Factitious disorder imposed on self or Munchausen’s syndrome (MS), is a psychiatric disorder in which physical symptoms are intentionally produced without any practical benefit. Patients with MS represent a diagnostic dilemma as laboratory and clinical results can be inconsistent with the history and physical exam. The aim of this study was to evaluate the role of the levothyroxine overload test to differentiate MS from malabsorption and to treat life-threaten...

ea0084ps3-13-118 | Pregnancy & Iodine | ETA2022

Which is the best pre-conceptional TSH cut-off in women submitted to assisted reproductive technology?

Vannucchi Guia , Campi Irene , Cagnina Serena , Covelli Danila , Mignini Renzini Mario , Persani Luca , Fugazzola Laura

TSH is involved in the immunomodulation of early pregnancy stages. Thyroid guidelines have indicated 2.5 mU/l as the best TSH level below which women undergoing assisted reproductive technology (ART) need to be maintained, though this treshold is still controversial. Aims of the present study were to evaluate if pre-conceptional TSH is associated with an increased risk of miscarriage, to identify a TSH cut-off significantly associated with risk of miscarriage and to assess the...

ea0084ps3-14-129 | Thyroid Cancer CLINICAL 2 | ETA2022

Hypocalcaemia secondary to lenvatinib induced-hypoparathyroidism: a case-report

Moneta Claudia , Trevisan Matteo , Colombo Carla , Giancola Noemi , Persani Luca , Fugazzola Laura , De Leo Simone

In the last decades, multi-tyrosine-kinase inhibitors (mTKI) have emerged as an effective treatment for radioiodine refractory differentiated thyroid cancer. Due to their pleiotropic mechanism of action, these drugs may cause different side effects. Hypocalcaemia has been reported in up to 35% of patients treated with mTKI, but up to date little is known about its pathophysiology and relevance. We report the case of a 78 years old woman operated on for a papillary thyroid canc...

ea0081p217 | Thyroid | ECE2022

A combining pre-surgical thyroid risk score (TRS) for nodules with indeterminate cytology

Colombo Carla , Vannucchi Guia , Muzza Marina , Pogliaghi Gabriele , Palazzo Sonia , Dionigi Gianlorenzo , Persani Luca , Gazzano Giacomo , Fugazzola Laura

Background: Cytology is the gold standard method for the differential diagnosis of thyroid nodules, though 25−30% of them are classified as indeterminate and, in some cases, surgery is required for a definitive diagnosis. Aim: In order to reduce unnecessary thyroid surgeries, we set up a ‘thyroid risk score’ (TRS) to increase the diagnostic accuracy in a large series of patients with indeterminate cytology and to apply it to a validation ...

ea0049ep1432 | Thyroid (non-cancer) | ECE2017

Expression analyses of HABP2 in neoplastic and normal thyroid tissues: could this gene play a role in the pathogenesis of familial non medullary thyroid cancer?

Muzza Marina , Colombo Carla , Proverbio Maria Carla , Ercoli Giulia , Perrino Michela , Cirello Valentina , Vicentini Leonardo , Ferrero Stefano , Fugazzola Laura

Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in large kindred with non-syndromic familial non medullary thyroid cancer (FNMTC), but these data were not confirmed in additional cohorts. Consistently, we found in our wide series of FNMTC that the HABP2G534E variant is frequent, but does not segregate with the disease. Nevertheless, a possible role for this gene in the pathogenesis of FNMTC cannot definitely ruled out also because co...

ea0044oc3.1 | Thyroid and Neoplasia | SFEBES2016

Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop ‘True’ Congenital Hypothyroidism

Peters Catherine , Nicholas Adeline K , Lyons Greta , Langham Shirley , Serra Eva , Schoenmakers Erik , Muzza Marina , Fugazzola Laura , Schoenmakers Nadia

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

ea0020htc4 | Hot topics: Clinical | ECE2009

ESE Young Investigator Award

Cordella Daniela , Muzza Marina , Bombled Johny , Bressac-de Paillerets Brigitte , Beck-Peccoz Paolo , Schlumberger Martin , Persani Luca , Fugazzola Laura

Germline activating mutations of the RET proto-oncogene are associated with inherited medullary thyroid cancer (MTC) and can be also detected in about 10% of apparently sporadic MTC cases. In the present study, 4 novel RET mutations, located in the extracellular domain (A510V, E511K and C531R) and in the intracellular juxtamembrane region (L666N), all identified by the genetic screening on sporadic MTC cases, are firstly reported and functionally characterized. RET Plasmids ca...

ea0016oc2.5 | Thyroid | ECE2008

Fetal cell microchimerism in papillary thyroid cancer: a possible role in tumor damage and tissue repair

Cirello Valentina , Recalcati Maria Paola , Muzza Marina , Rossi Stefania , Perrino Michela , Beck-Peccoz Paolo , Finelli Palma , Fugazzola Laura

Fetal cells enter the maternal circulation during pregnancy and can persist in the maternal blood or tissues for decades, creating a physiological microchimerism. Since papillary thyroid cancer (PTC) is more frequent in female gender and it is the second more frequent tumor during pregnancy, the role of persisting microchimeric cells has been investigated. Tumour tissue specimens were obtained from 62 women with PTC, 41 of whom had at least one male child before the diagnosis ...

ea0016p698 | Thyroid | ECE2008

Absence of sonic hedgehog mutations in a large cohort of children with thyroid dysgenesis

Muzza Marina , de Filippis Tiziana , Gastaldi Roberto , Weber Giovanna , Lorini Renata , Beck-Peccoz Paolo , Persani Luca , Fugazzola Laura

Thyroid dysgenesis accounts for 75% of all cases of congenital hypothyroidism (CH), and includes thyroid agenesis or hemiagenesis, thyroid hypoplasia, and thyroid ectopy. Thyroid transcription factors TTF-1, TTF-2 and Pax-8, which are involved in the development of the thyroid gland and its normal migration, have been indicated as the best candidate genes but have been found to be mutated in a minority of cases. Sonic Hedgehog (Shh) protein is involved in several key events du...

ea0016p765 | Thyroid | ECE2008

A prospective study on a large series of non toxic multinodular goiters treated with radioiodine: results at long term follow-up

Vannucchi Guia , Mannavola Deborah , Chiti Arturo , Dazzi Davide , Rodari Marcello , Tadayyon Sara , Beck-Peccoz Paolo , Fugazzola Laura

Radioiodine (131I) administration has been found to be effective in the treatment of hyperfunctioning and normofunctioning multinodular goiter. Moreover, lithium therapy has been shown to enhance the radioiodine efficacy and to reduce the transient thyrotoxicosis induced by radioiodine.Aim of the present study was to evaluate the long term efficacy of 131I with or without lithium administration in the treatment of non toxic multinod...