A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Very-Early Onset Autoimmune Hypothyroidism: A Report of Two Cases with STAT3 Gain-Of-Function Variant
Tekijät: Ravi, Rowmika; Niskanen, Anita; Reeve, Mary Pat; Makkonen, Kristiina; Niinikoski, Harri; Toppari, Jorma; Kero, Jukka
Kustantaja: Bioscientifica
Julkaisuvuosi: 2025
Lehti: European thyroid journal
Artikkelin numero: ETJ-25-0260
ISSN: 2235-0640
eISSN: 2235-0802
DOI: https://doi.org/10.1530/ETJ-25-0260
Julkaisun avoimuus kirjaamishetkellä: Avoimesti saatavilla
Julkaisukanavan avoimuus : Kokonaan avoin julkaisukanava
Verkko-osoite: https://doi.org/10.1530/etj-25-0260
Rinnakkaistallenteen osoite: 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.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
Julkaisussa olevat rahoitustiedot:
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).
