Functional non-coding variants in a TTTG microsatellite on chromosome 15q26.1 are a common genetic etiology of congenital hypothyroidism with thyroid gland in situ
Authors' conclusion
These findings provide further evidence supporting the role of 15q26.1 variants as a common genetic etiology of CH, with clinical phenotypes including transient CH. Early genetic evaluation may facilitate the identification of 15q26.1 variant carriers among patients who are diagnosed with CH.
Study context
- Population
- Participants diagnosed with congenital hypothyroidism (CH) at Tohoku University, screened for genetic variants on 15q26.15 variant carriers
- Participants
- 63 participants
- Outcome
- 15q26.1 variant carriers and their phenotype
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
- 15q26.1 variant carriers identified, from four families
- 5
- Family history of thyroid abnormalities among carriers
- 3 of 5
- Carriers who discontinued LT4
- 2
- LT4 dose in the others at final visit (relatively low)
- 1.33-1.89 µg/kg/day
- Continued treatment into adulthood
- 3 of 5
- Normal intellectual development and stature
- 5 of 5
Observational data: associations, not effects.
Original publication
Functional non-coding variants in a TTTG microsatellite on chromosome 15q26.1 are a common genetic etiology of congenital hypothyroidism with thyroid gland in situ. Horm Res Paediatr. Published 10 June 2025. doi:10.
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