{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T14:25:51Z","timestamp":1763389551211},"reference-count":54,"publisher":"EDP Sciences","issue":"3","license":[{"start":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T00:00:00Z","timestamp":1648166400000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>L\u2019hypothyro\u00efdie cong\u00e9nitale (HC) est la maladie endocrinienne n\u00e9onatale la plus fr\u00e9quente. Elle peut \u00eatre due \u00e0 des d\u00e9fauts de d\u00e9veloppement ou de la fonction de la thyro\u00efde (HC primaire ou p\u00e9riph\u00e9rique) ou d\u2019origine hypothalamo-hypophysaire (HC centrale). L\u2019HC primaire est caus\u00e9e dans la majorit\u00e9 des cas par une anomalie du d\u00e9veloppement de la glande (dysg\u00e9n\u00e9sie thyro\u00efdienne, DT) ou par un d\u00e9faut de synth\u00e8se des hormones thyro\u00efdiennes (dyshormonogen\u00e8se, DH). Une origine g\u00e9n\u00e9tique est identifi\u00e9e chez 50 % des patients pr\u00e9sentant une HCDH mais dans moins de 5 % des patients pr\u00e9sentant une HCDT. Cette revue fait le point sur l\u2019ensemble des causes g\u00e9n\u00e9tiques des HC et sur les diff\u00e9rents modes de transmission. L\u2019HC n\u2019est plus simplement une maladie dominante pour les dysg\u00e9n\u00e9sies thyro\u00efdiennes et r\u00e9cessive pour les dyshormonogen\u00e8ses, mais est devenue une maladie plus complexe.<\/jats:p>","DOI":"10.1051\/medsci\/2022028","type":"journal-article","created":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T08:53:36Z","timestamp":1648198416000},"page":"263-273","source":"Crossref","is-referenced-by-count":5,"title":["G\u00e9n\u00e9tique de l\u2019hypothyro\u00efdie cong\u00e9nitale"],"prefix":"10.1051","volume":"38","author":[{"given":"Athanasia","family":"Stoupa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dulanjalee","family":"Kariyawasam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Polak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurore","family":"Carr\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2022,3,25]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1051\/medsci\/2021058","volume":"37","author":"L\u00e9ger","year":"2021","journal-title":"Med Sci (Paris)"},{"key":"R2","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.annepidem.2015.11.005","volume":"26","author":"Barry","year":"2016","journal-title":"Ann Epidemiol"},{"key":"R3","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1159\/000151597","volume":"70","author":"Cavarzere","year":"2008","journal-title":"Horm Res"},{"key":"R4","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1210\/jc.2004-1358","volume":"90","author":"Trueba","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"R5","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.mce.2017.01.038","volume":"458","author":"Carvalho","year":"2017","journal-title":"Mol Cell Endocrinol"},{"key":"R6","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.ecl.2016.01.007","volume":"45","author":"Stoupa","year":"2016","journal-title":"Endocrinol Metab Clin North Am"},{"key":"R7","first-page":"599","volume":"26","author":"Carr\u00e9","year":"2017","journal-title":"Hom Mol Genet"},{"key":"R8","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1210\/jc.2017-02202","volume":"103","author":"Zou","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"key":"R9","doi-asserted-by":"crossref","first-page":"e1004381","DOI":"10.1371\/journal.pgen.1004381","volume":"10","author":"Levy-Strumpf","year":"2014","journal-title":"PLoS Genet"},{"key":"R10","doi-asserted-by":"crossref","first-page":"3923","DOI":"10.1172\/JCI95442","volume":"127","author":"M\u00e9neret","year":"2017","journal-title":"J Clin Invest"},{"key":"R11","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1210\/en.2014-1628","volume":"156","author":"Opitz","year":"2015","journal-title":"Endocrinology"},{"key":"R12","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s40618-017-0715-x","volume":"41","author":"Marelli","year":"2018","journal-title":"J Endocrinol Invest"},{"key":"R13","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1210\/jc.2015-3403","volume":"101","author":"de Filippis","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"R14","doi-asserted-by":"crossref","first-page":"e9569","DOI":"10.15252\/emmm.201809569","volume":"10","author":"Stoupa","year":"2018","journal-title":"EMBO Mol Med"},{"key":"R15","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000507114","volume":"93","author":"Choukair","year":"2020","journal-title":"Horm Res Paediatr"},{"key":"R16","doi-asserted-by":"crossref","first-page":"5765","DOI":"10.1074\/jbc.M115.711697","volume":"291","author":"Reale","year":"2016","journal-title":"J Biol Chem"},{"key":"R17","doi-asserted-by":"crossref","first-page":"1944","DOI":"10.1038\/s41436-021-01237-3","volume":"23","author":"Yang","year":"2021","journal-title":"Genet Med"},{"key":"R18","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.beem.2017.04.008","volume":"31","author":"Abu-Khudir","year":"2017","journal-title":"Best Pr. 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