{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T06:59:49Z","timestamp":1771657189393,"version":"3.50.1"},"reference-count":71,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T00:00:00Z","timestamp":1663200000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and the most common preventable cause of development delay and growth failure if diagnosed and treated early. The thyroid is the first endocrine gland to develop during embryonic life and to be recognizable in humans. Thyroid development and maturation can be divided into 2 phases: a first phase of embryogenesis and a second phase of folliculogenesis and differentiation with thyroid hormone production at the final steps. Regulation of the thyroid function requires normal development of the hypothalamic\u2013pituitary\u2013thyroid axis, which occurs during the embryonic and neonatal period. Defects in any of steps of thyroid development, differentiation, and regulation lead to permanent CH. Newborn screening programs, established in only one-third of countries worldwide, detect CH and are cost-effective and highly sensitive and specific. During the last decade, epidemiology of CH has changed with increased frequency of thyroid in situ in primary CH. Advances in molecular testing have expanded knowledge and understanding of thyroid development and function. However, a molecular cause is identified in only 5% of CH due to thyroid dysgenesis. The purpose of this article is to describe the clinical approach to the child with CH, focusing on diagnostic work-up and future challenges on optimizing thyroid replacement therapy and regenerative medicine. The review is written from the perspective of the case of 2 girls referred for CH after newborn screening and diagnosed with thyroid ectopy. The genetic work-up revealed novel mutations in TUBB1 gene, associated with large platelets and abnormal platelet physiology.<\/jats:p>","DOI":"10.1210\/clinem\/dgac534","type":"journal-article","created":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T17:14:58Z","timestamp":1663262098000},"page":"3418-3427","source":"Crossref","is-referenced-by-count":9,"title":["Approach to the Patient With Congenital Hypothyroidism"],"prefix":"10.1210","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1164-5862","authenticated-orcid":false,"given":"Athanasia","family":"Stoupa","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department, H\u00f4pital Universitaire Necker-Enfants Malades, Assistance Publique H\u00f4pitaux de Paris , Paris , France"},{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, U1016 INSERM, Cochin Institute and U1163 INSERM , Imagine Institute affiliate, Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3870-202X","authenticated-orcid":false,"given":"Dulanjalee","family":"Kariyawasam","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department, H\u00f4pital Universitaire Necker-Enfants Malades, Assistance Publique H\u00f4pitaux de Paris , Paris , France"},{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, U1016 INSERM, Cochin Institute and U1163 INSERM , Imagine Institute affiliate, Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrien","family":"Nguyen Quoc","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department, H\u00f4pital Universitaire Necker-Enfants Malades, Assistance Publique H\u00f4pitaux de Paris , Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2639-352X","authenticated-orcid":false,"given":"Michel","family":"Polak","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department, H\u00f4pital Universitaire Necker-Enfants Malades, Assistance Publique H\u00f4pitaux de Paris , Paris , France"},{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, U1016 INSERM, Cochin Institute and U1163 INSERM , Imagine Institute affiliate, Paris , France"},{"name":"Centre de r\u00e9f\u00e9rence des maladies endocriniennes rares de la croissance et du d\u00e9veloppement, H\u00f4pital Universitaire Necker-Enfants Malades , Paris , France"},{"name":"Centre r\u00e9gional de d\u00e9pistage n\u00e9onatal (CRDN), Ile-de-France, F\u00e9d\u00e9ration parisienne pour le d\u00e9pistage et la pr\u00e9vention des handicaps de l'enfant (FPDPHE) , Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6795-3629","authenticated-orcid":false,"given":"Aurore","family":"Carr\u00e9","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, U1016 INSERM, Cochin Institute and U1163 INSERM , Imagine Institute affiliate, Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2022,9,15]]},"reference":[{"issue":"5","key":"2022112511295400000_dgac534-B1","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1097\/MED.0000000000000181","article-title":"Congenital hypothyroidism: recent advances","volume":"22","author":"Wassner","year":"2015","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"issue":"8255","key":"2022112511295400000_dgac534-B2","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1016\/S0140-6736(81)91287-3","article-title":"Effects of neonatal screening for 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