A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation

Autor: G. Radetti, A. Puel, R. Franceschi, S. Longhi, N. Gallo, C. Betterle

Publikováno v: Journal of Endocrinological Investigation. 46:629-632

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b5d3370d2fad91e3440199b90a2b3546
https://doi.org/10.1007/s40618-022-01937-w

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Autor: Marco Bonomi, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzocaro, Gianni Russo, Mirella Moro, Letizia Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvo Cannavò, Andrea M Isidori, Angela Ida Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Pregnolato Francesca, Mohamad Maghnie, Mario Maggi, Luca Persani, G Aimaretti, M Altobelli, M R Ambrosio, M Andrioli, G Angeletti, F Arecco, G Arnaldi, M Arosio, A Balsamo, M Baldassarri, L Bartalena, N Bazzoni, L Beccaria, P Beck-Peccoz, G Bellastella, M Bellizzi, F Benedicenti, S Bernasconi, C Bizzarri, G Bona, S Bonadonna, G Borretta, M Boschetti, A Brunani, V Brunelli, F Buzi, C Cacciatore, B Cangiano, M Cappa, R Casalone, A Cassio, P Cavarzere, V Cherubini, T Ciampani, D Cicognani, A Cignarelli, M Cisternino, P Colombo, S Corbetta, N Corciulo, G Corona, R Cozzi, C Crivellaro, I Dalle Mule, L Danesi, A V D’Elia, E degli Uberti, S De Leo, E Della Valle, M De Marchi, N Di Iorgi, A Di Mambro, A Fabbri, C Foresta, G Forti, A R Franceschi, A Garolla, M Ghezzi, C Giacomozzi, M Giusti, E Grosso, G Guabello, M P Guarneri, G Grugni, A M Isidori, F Lanfranco, A Lania, R Lanzi, L Larizza, A Lenzi, S Loche, P Loli, V Lombardi, M C Maggio, G Mandrile, C Manieri, G Mantovani, S Marelli, M Marzullo, M A Mencarelli, N Migone, G Motta, G Neri, G Padova, G Parenti, B Pasquino, A Pia, E Piantanida, E Pignatti, A Pilotta, B Pivetta, M Pollazzon, A Pontecorvi, P Porcelli, G B Pozzan, G Pozzobon, G Radetti, P Razzore, L Rocchetti, R Roncoroni, G Rossi, E Sala, A Salvatoni, F Salvini, A Secco, M Segni, R Selice, P Sgaramella, F Sileo, A A Sinisi, F Sirchia, A Spada, A Tresoldi, R Vigneri, G Weber, S Zucchini

Objective Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present altho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f800b3107977776e40dbca2a965ea877
http://hdl.handle.net/11383/2066625

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The natural history of the normal/mild elevated tsh serum levels in hashimoto’s thyroiditis and isolated hyperthyrotropinemia: a three year follow-up

Autor: G. Radetti, M. Maselli, F. Buzi, A. Corrias, M. Baiocchi, P. Cambiaso, M. Cappa, R. Gastaldi, S. Loche, SALERNO, MARIACAROLINA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::3890ed95c9889993d9c42eeff8eb216e
http://hdl.handle.net/11588/477666

Clinical Case Seminar in Pediatric Thyroid Disease

Autor: A.J. Bauer, K. Onigata, Rossella Elisei, G. Radetti, Elizabeth N. Pearce, Gabor Szinnai, Juliane Léger, Johnny Deladoëy, Helton Estrela Ramos, G. Van Vliet, M.H. Canalli, M. Polak

Pediatric thyroid diseases cover a large spectrum of congenital and acquired forms, ranging from congenital primary or central hypothyroidism, autoimmune thyroid disease, iodine deficiency, rare genetic defects of thyroid hormone action, metabolism a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::75ca40902d239c53184aff50575fd42b
https://doi.org/10.1159/000363166