{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:28:46Z","timestamp":1786580926173,"version":"build-2736575974"},"reference-count":103,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,8,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Congenital hypothyroidism (CH) encompasses a diverse spectrum of disorders with diverse genetic etiologies and variable clinical courses, ranging from transient neonatal hyperthyrotropinemia to permanent thyroid hormone or thyrotropin deficiency. Advances in molecular genetics have substantially expanded the catalog of genes implicated in CH; however, the translation of this knowledge into everyday clinical practice remains challenging. In this Approach to the Patient, we use selected clinical vignettes to illustrate how genetic information can substantiate the diagnosis, management, and counseling of patients with CH. Rather than providing an exhaustive genetic review, this paper focuses on clinically relevant scenarios and pragmatic decision points\u2014when to perform genetic testing, how results influence treatment duration and intensity, and how they guide prognostication and family counseling. This case-based framework emphasizes a pragmatic, patient-centered approach to the use of genetics in the management of CH.<\/jats:p>","DOI":"10.1210\/clinem\/dgag215","type":"journal-article","created":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:46:38Z","timestamp":1779363998000},"page":"2678-2691","source":"Crossref","is-referenced-by-count":1,"title":["Approach to the patient: genetics and management of congenital hypothyroidism"],"prefix":"10.1210","volume":"111","author":[{"given":"Adrien","family":"Nguyen Quoc","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, Inserm, UMR-S 1016, Institut Cochin , F-75014 Paris ,","place":["France"]},{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Institut Imagine, Laboratoire Affili\u00e9, UMR-S 1163 , F-75015 Paris ,","place":["France"]},{"name":"Pediatric Endocrinology and Diabetology Department, Jean Minjoz University Hospital , 25030 Besan\u00e7on ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3870-202X","authenticated-orcid":false,"given":"Dulanjalee","family":"Kariyawasam","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, Inserm, UMR-S 1016, Institut Cochin , F-75014 Paris ,","place":["France"]},{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Institut Imagine, Laboratoire Affili\u00e9, UMR-S 1163 , F-75015 Paris ,","place":["France"]},{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department, Necker-Enfants Malades University Hospital, Assistance Publique-H\u00f4pitaux de Paris , 75015 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2639-352X","authenticated-orcid":false,"given":"Michel","family":"Polak","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, Inserm, UMR-S 1016, Institut Cochin , F-75014 Paris ,","place":["France"]},{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Institut Imagine, Laboratoire Affili\u00e9, UMR-S 1163 , F-75015 Paris ,","place":["France"]},{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department, Necker-Enfants Malades University Hospital, Assistance Publique-H\u00f4pitaux de Paris , 75015 Paris ,","place":["France"]},{"name":"Referral Center for Rare Endocrine Diseases Affecting Growth and Development, Necker-Enfants Malades University Hospital , 75015 Paris ,","place":["France"]},{"name":"Regional Neonatal Screening Center (CRDN) for the \u00cele-de-France Region , 75015 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, Inserm, UMR-S 1016, Institut Cochin , F-75014 Paris ,","place":["France"]},{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Institut Imagine, Laboratoire Affili\u00e9, UMR-S 1163 , F-75015 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1164-5862","authenticated-orcid":false,"given":"Athanasia","family":"Stoupa","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, Inserm, UMR-S 1016, Institut Cochin , F-75014 Paris ,","place":["France"]},{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Institut Imagine, Laboratoire Affili\u00e9, UMR-S 1163 , F-75015 Paris ,","place":["France"]},{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department, Necker-Enfants Malades University Hospital, Assistance Publique-H\u00f4pitaux de Paris , 75015 Paris ,","place":["France"]},{"name":"Referral Center for Rare Endocrine Diseases Affecting Growth and Development, Necker-Enfants Malades University Hospital , 75015 Paris 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