The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing
Authors' conclusion
NGS in patients with CH-GIS in France found a molecular explanation in 42% of the cases, increasing to 70% when TSHsc was ≥ 80 mUI/L or FT4dg was ≤ 5 pmol/L.
Study context
- Population
- Patients with congenital hypothyroidism with gland-in-situ (CH-GIS) from the French national screening program, referred to the Reference Center for Rare Thyroid Diseases, Angers University Hospital
- Participants
- 103 patients
- Comparison
- Molecular yield by CH severity
- Outcome
- Molecular yield of targeted NGS (solved or probably solved cases)
Methodological detailstargeted next-generation sequencing (NGS) panel of 48 genes, single referral centre
- Targeted NGS panel of 48 genes
- Single referral centre
Performance
As reported in the abstract
Molecular yield by CH severity
Further findings
Overall NGS results
- Patients with variants identified (95 variants in 10 genes)
- 73 of the 103
- Solved cases
- 25
- Probably solved cases
- 18
- TG gene mutations
- 20
- TPO gene mutations
- 15
Original publication
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing. J Clin Endocrinol Metab. Published 8 March 2023. doi:10.
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