ea0092ps3-26-02 | Thyroid hormone diagnostics 2 | ETA2023
Ravikumar Vikashini
, Peters Catherine
, Cerbone Manuela
, Bhushan Arya Ved
, Agrawal Pankaj
, Katugampola Harshini
, Langham Shirley
, Schoenmakers Erik
, Schoenmakers Nadia
Introduction: Paired box gene 8 (PAX8) is a key transcription factor required both for normal fetal thyroid development and maintenance of the differentiated thyroid phenotype, mediating transcriptional activation of SLC5A5, TG, and TPO, and synergizing with NKX2-1 at the TG promoter. Heterozygous PAX8 mutations are a rare but well-recognized cause of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD), and are classically associated with thyroid hypoplasia. However,...