A1 Refereed original research article in a scientific journal
Very-Early Onset Autoimmune Hypothyroidism: A Report of Two Cases with STAT3 Gain-Of-Function Variant
Authors: Ravi, Rowmika; Niskanen, Anita; Reeve, Mary Pat; Makkonen, Kristiina; Niinikoski, Harri; Toppari, Jorma; Kero, Jukka
Publisher: Bioscientifica
Publication year: 2025
Journal: European thyroid journal
Article number: ETJ-25-0260
ISSN: 2235-0640
eISSN: 2235-0802
DOI: https://doi.org/10.1530/ETJ-25-0260
Publication's open availability at the time of reporting: Open Access
Publication channel's open availability : Open Access publication channel
Web address : https://doi.org/10.1530/etj-25-0260
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/505607672
Autoimmune hypothyroidism occurs rarely before three years of age. Two siblings were diagnosed with autoimmune hypothyroidism at age five and 16 months, presenting with classic symptoms of hypothyroidism, abnormal thyroid function tests (TSH 200 and 660 mU/L; reference 0.73-8.4 mU/L; Free T4 5.9 and <1.3 pmol/L; reference 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.
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Funding information in the publication:
This study was supported by the Finnish Paediatric Society (Grant number 190001), the Sigrid Jusélius Foundation (Grant number 115-1956-26), and the Novo Nordisk Foundation (Grant number 0078329).
