Summary

Congenital hypothyroidism (CH) and resistance to thyroid hormone syndrome (RTH) are conditions impacting production or use of thyroid hormones. In this study, we assessed the utility of next-generation sequencing (NGS) multigene panel tests in identifying a molecular etiology for a cohort of 117 individuals with suspected CH or RTH. Key findings identified in this unselected referral population included

• Positive findings were reported in 19.7% of patients 

• Yield of positive findings was significantly higher among patients tested​ in their first two years of life than among those tested at age 2 or older 

• A dual positive result of CH and RTH was identified 

This study reinforces the importance of genetic testing in this patient population, with approximately 1 in 5 patients with suspected CH or RTH receiving a positive result.  

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Authors:

Alicia Scocchia, Kimberly Gall, Julie Hathaway, Christèle de Soiuch, Archie Taylor, Johanna Huusko, Manuel Bernal, Inka Saarinen, Jennifer Schleit, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo