ECEESPE2025 Poster Presentations Thyroid (141 abstracts)
Thyroid function and ultrasound morphology of the thyroid gland in a cohort of patients with rasopathies: an italian multicenter study
Flavia URBANO 1 , Luigi Moscogiuri 1 , Cinzia Rotondo 2 , Federica Tamburrino 3 , Emanuela Scarano 3 , Laura Guazzarotti 4 , Chiara Mozzato 4 , Anna Grandone 5 , Stefano Stagi 6 , Eugenio Trinati 6 , Margherita Wasniewska 7 , Roberto Coco 7 , Maria Elisabeth Street 8 , Maddalena Petraroli 8 , Gabriella Pozzobon 9 , Ilaria Polenzani 9 , Valeria Calcaterra 10 , Giuseppa Patti 11 , Stefania Lasorella 12 & Maria Felicia Faienza 1
1UO Pediatria Generale e Specialistica "B. Trambusti", AOUC Policlinico Ospedale Pediatrico "Giovanni XXIII", Bari, Bari, Italy; 2UOC University Rheumatology, Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy; 3UO Malattie Rare Congenito-Malformative Centro Hub Regione Emilia Romagna Malattie Rare Pediatriche, IRCCS Azienda Ospedaliero-Universitaria S. Orsola-Malpighi, Bologna, Bologna, Italy; 4UOSD Endocrinologia Pediatrica, Dipartimento di Salute della Donna e del Bambino, Azienda Ospedale-Università di Padova, Padova, Italy; 5UOC Pediatria Generale e Specialistica, AOU dell’Università della Campania L. Vanvitelli, Napoli, Italy; 6Meyer Children Hospital IRCCS, Firenze, Firenze, Italy; 7Dipartimento di Patologia Umana dell’adulto e dell’età evolutiva “Gaetano Barresi”, Messina, Messina, Italy; 8UO Clinica Pediatrica, Centro Clinico e di Ricerca, Unità Metabolica per l’Endocrinologia Pediatrica, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy; 9UO Pediatria e Neonatologia, I.R.C.C.S. Ospedale San Raffaele Milano, Milano, Italy; 10UOC Pediatria-Ospedale dei Bambini Buzzi, Milano, Milano, Italy; 11UOC Clinica Pediatrica e Endocrinologia, IRCCS Istituto Giannina Gaslini, Genova, Genova, Italy; 12UOC Pediatria e Terapia Intensiva Neonatale e Pediatrica, Ospedale M. Bufalini Cesena, Cesena, Italy
JOINT3716
Background: Subjects affected by RASopathies have an increased susceptibility to autoimmune diseases.
Aims: The aim of our study was to define the prevalence of antithyroid antibodies (ATAs) and ultrasound (US) abnormalities of the thyroid gland in a population of children and young adults with RASopathies.
Methods: Eleven Italian Pediatric Endocrinology Centers participated to this cross-sectional observational study. Inclusion criteria were molecular diagnosis of Rasopathies and availability of data on thyroid function (TSH, fT3, fT4), thyroid immune profile (anti-thyroglobulin, anti-thyroperoxydase, anti-TSH receptor antibodies) and thyroid doppler ultrasound.
Results: In this study data from 136 subjects with Rasopathies, 70 males (51.5%) and 66 females (48.5%), with an average age of 12.1 years, were collected. Among them, 127 patients (93.4%) were affected by Noonan Syndrome (NS) and 9 patients (6.6%) by other Rasopathies (3 Mazzanti Syndrome (MS), 2 Neurofibromatosis I (NF I), 2 Cardiofaciocutaneous Syndrome (CFCS), 2 Noonan Syndrome with multiple lentigines (NSML). The most prevalent genetic mutation was PTPN11, which was detected in 93 patients (68.4%). Further mutations were found in the following genes: SOS1/2, RAF1, NRAS, KRAS, LZTR1, SHOC2, BRAF, ERF, NF1, RIT 1, MEK1, MAP2K1, PPP1CB, PRMT6, NTNG1. ATAs positivity was detected in 23 out of 136 patients with an overall prevalence of 17.1% (7.7% of whom with double positivity), without a significant difference in gender or pubertal stage. Among patients with ATA positivity, 20 were affected by NS (17 PTPN11, 1 LZTR, 1 BRAF, 1 SOS1) and 3 were affected by MS (SHOC2). Four patients with NS (2 PTPN11, 1 LZTR, 1 SOS1) and positive ATAs presented a condition of hypothyroidism while 19 patients (16 NS and 3 MS) were in euthyroidism. Among patients with ATAs positivity, 69.2% presented with US abnormalities (thyroid nodules, increase or decrease in thyroid volume, abnormal echotexture) and 5.6% showed an US pattern of thyroiditis. Patients with positivity for at least one ATAs had a significantly higher prevalence of US abnormalities. No association was found between PTPN11 gene mutation and the biochemical profile of thyroid function, the ultrasound pattern of autoimmune thyroiditis, abnormalities of thyroid volume and echotexture or thyroid nodules.
Conclusions: Subjects with Rasopathies have a higher prevalence of autoimmune and nodular thyroid disease compared to the general population. Further studies are needed to define the genotype-phenotype correlation and to identify early risk factors for the development of autoimmune thyroid disease and thyroid nodules in these patients in order to prevent long-term complications.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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