{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(6)"],"submitter":["Ravi R"],"pubmed_abstract":["Autoimmune hypothyroidism occurs rarely before 3 years of age. Two siblings were diagnosed with autoimmune hypothyroidism at age 5 and 16 months, presenting with classic symptoms of hypothyroidism, abnormal thyroid function tests (TSH: 200 and 660 mU/L; reference range (RR): 0.73-8.4 mU/L; Free T4: 5.9 and <1.3 pmol/L; RR: 11.9-25.6 pmol/L), and high thyroid peroxidase antibody levels. Thyroxine medication alleviated their symptoms. Apart from mild infections, the siblings exhibited no other major disorders. Whole exome sequencing identified a pathogenic STAT3 gain-of-function variant, most commonly associated with infantile-onset multi-organ autoimmune disorder. Genetic testing for early-onset hypothyroidism may reveal specific etiologies, impacting follow-up and treatment."],"journal":["European thyroid journal"],"pagination":["e250260"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12687928"],"repository":["biostudies-literature"],"pubmed_title":["Very-early-onset autoimmune hypothyroidism: a report of two cases with STAT3 gain-of-function variant."],"pmcid":["PMC12687928"],"pubmed_authors":["Kero J","Makkonen K","Niinikoski H","Toppari J","Niskanen A","Reeve MP","Ravi R"],"additional_accession":[]},"is_claimable":false,"name":"Very-early-onset autoimmune hypothyroidism: a report of two cases with STAT3 gain-of-function variant.","description":"Autoimmune hypothyroidism occurs rarely before 3 years of age. Two siblings were diagnosed with autoimmune hypothyroidism at age 5 and 16 months, presenting with classic symptoms of hypothyroidism, abnormal thyroid function tests (TSH: 200 and 660 mU/L; reference range (RR): 0.73-8.4 mU/L; Free T4: 5.9 and <1.3 pmol/L; RR: 11.9-25.6 pmol/L), and high thyroid peroxidase antibody levels. Thyroxine medication alleviated their symptoms. Apart from mild infections, the siblings exhibited no other major disorders. Whole exome sequencing identified a pathogenic STAT3 gain-of-function variant, most commonly associated with infantile-onset multi-organ autoimmune disorder. Genetic testing for early-onset hypothyroidism may reveal specific etiologies, impacting follow-up and treatment.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-06-06T00:09:57.832Z","creation":"2026-05-23T03:13:49.712Z"},"accession":"S-EPMC12687928","cross_references":{"pubmed":["41263296"],"doi":["10.1530/ETJ-25-0260"]}}