A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism
Monica Malheiros Franc¸ a,1 Lucy Reeve,2 Alexandra M. Dumitrescu,1,3 Martin de Bock,2,4 and Samuel Refetoff1,5,6
The pathophysiology of transient congenital hypothyroidism
Catherine Peters1 and Nadia Schoenmakers 2
An Overview on Different L-Thyroxine (l-T4) Formulations and Factors Potentially Influencing the Treatment of Congenital Hypothyroidism During the First 3 Years of Life
Stefano Stagi 1*, Giovanna Municchi 1 , Marta Ferrari 1 and Malgorzata Gabriela Wasniewska2
Genetics of congenital hypothyroidism: Modern concepts
Athanasia Stoupa1,2,3,4 Dulanjalee Kariyawasam1,2,3,4 Michel Polak1,2,3,4,5 Aurore Carré2,3
Congenital Hypothyroidism: A 2020?2021 Consensus Guidelines Update? An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology
Paul van Trotsenburg,1,* Athanasia Stoupa,2–5,* Juliane Le´ ger,6,7 Tilman Rohrer,8 Catherine Peters,9 Laura Fugazzola,10,11 Alessandra Cassio,12 Claudine Heinrichs,13 Veronique Beauloye,14 Joachim Pohlenz,15 Patrice Rodien,16 Regis Coutant,17 Gabor Szinnai,18 Philip Murray,19,20 Beate Barte´ s,21 Dominique Luton,22,23 Mariacarolina Salerno,24 Luisa de Sanctis,25 Mariacristina Vigone,26 Heiko Krude,27 Luca Persani,28,29 and Michel Polak2–5,30–32
Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age
Celeste Casto, Giorgia Pepe, Alessandra Li Pomi, Domenico Corica, Tommaso Aversa, Malgorzata Wasniewska
Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, 98124 Messina, Italy.
2016 American Thyroid Association Guidelines for Diagnosis and Management of Hyperthyroidism and Other Causes of Thyrotoxicosis
Thyroid. 2016 Oct;26(10):1343-1421
Ross DS et al
Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer The American Thyroid Association Guidelines Task Force on Pediatric Thyroid Cancer
Thyroid. 2015 Jul 1; 25(7): 716–759.
Gary LF et Al
European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism
Horm Res Paediatr 2014;81:80-103
Leger J et al
Raccomandazioni italiane sulla gestione del bambino con ipotiroidismo congenito
Raccomandazioni italiane sulla gestione del bambino con ipotiroidismo congenito "The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow up, and surveillance" (J Endocrinol Invest. 2013 Feb 12. Epub ahead of print). Tali raccomandazioni coordinate da Alessandra Cassio, Caro Corbetta ed Antonella Olivieri hanno visto la partecipazione attiva di molti componenti del GdS.