Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis
Authors' conclusion
We describe variable phenotypes associated with the SLC26A7 pathogenic variant, ranging from severe CH with large congenital goiters to delayed onset hypothyroidism and dentofacial abnormalities. SLC26A7 shows thyrotropin-, GNAS-, and dietary iodine-dependent basolateral localization, suggesting their role in phenotypic variations.
Study context
- Population
- Finnish patients with congenital hypothyroidism (clinical congenital hypothyroidism (CH) cohort); thyroid samples from humans and mouse modelsclinical CH cohort
- Participants
- 139 patients
- Outcome
- SLC26A7 variants and phenotypes
Methodological detailsexome sequencing, FinnGen database (R12 release) screening, human and mouse thyroid histology and gene expression
- Exome sequencing
- FinnGen database (R12 release) screening
- Human and mouse thyroid histology and gene expression
Main finding
As reported in the abstract
- Large trachea-compressing goiters requiring thyroidectomy at birth
- 2
- Homozygous participant with normal CH screening who developed hypothyroidism at age 16
- 1
- Heterozygous carrier with permanent CH at birth
- 1
- Enamel hypoplasia (carriers)
- 4
- Pro- or retrognathia and malocclusion requiring orthodontic treatment (carriers)
- 8/24
Observational data: associations, not effects.
Further findings
FinnGen screening
- Enrichment of the variant in the Finnish population
- 75-fold
- Heterozygous cases with early-onset hypothyroidism and dentofacial abnormalities (plus a few homozygous)
- 7
SLC26A7 localization and expression
- Human thyrocytes: SLC26A7 localized to the basolateral membrane, intense staining in hyperthyroid samples
- Mouse thyroid models: expression pattern depended on dietary iodide, thyrotropin signaling and GNAS activity
Original publication
Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis. Thyroid. Published 22 January 2026. doi:10.
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