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Article

Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Aug 2024

Aytaç Kaplan Emel Hatun, Mermer Serdar

Abstract excerpt

AIM: Congenital hypothyroidism (CH) is the most common endocrine disorder of the newborn; it is seen in every 3000-4000 births. Genetic features can guide treatment for patients with in situ glands. The present study aimed to contribute to the literature on CH variants and to show the benefit that genetic analysis can provide to patients in follow-up. METHOD: A total of 52 patients (47 families) diagnosed with CH...

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Identifiers

PMID: 39003160
DOI: 10.1016/j.arcped.2024.03.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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