Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism
Authors' conclusion
Genetic testing can change diagnosis and treatment decisions in a small proportion of children with CH, but the resulting benefit may outweigh the burden of lifelong follow-up and treatment.
Study context
- Population
- Children with congenital hypothyroidism (CH) with normal, goitrous (n 5) or hypoplastic thyroid (n 5)
- Participants
- 48 children
- Exposure
- Diagnosis before vs after genetic testing; Transient CH (TCH) vs permanent CH (PCH) vs persistent hyperthyrotropinemia (PHT)
- Outcome
- Change in diagnosis after re-evaluation based on genetic testing
Methodological detailshigh-throughput sequencing, custom-designed 23-gene panel
- High-throughput sequencing
- Custom-designed 23-gene panel
Main finding
As reported in the abstract
- PCH changed to PHT
- n 2
- PCH changed to TCH
- n 3
- PHT changed to TCH
- n 5
- Initial distribution: TCH / PCH / PHT
- n 15 / n 26 / n 7
- Final distribution: TCH / PCH / PHT
- n 23 / n 21 / n 4
- Treatment discontinued (monoallelic TSHR or DUOX2, or no pathogenic variants)
- five patients
Observational data: associations, not effects.
Further findings
| Outcome | TCH | PCH |
|---|---|---|
| Molecular diagnosis rate | 26% | 57% |
Variants detected
- Variants detected (35 different, 15 novel)
- 41
- Patients with variants
- 65% (n 31)
- Genetic etiology explained (most often TG, TSHR, DUOX2)
- 46% (n 22)
Molecular diagnosis rate
- Significantly higher in PCH than TCH
Original publication
Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism. Eur Thyroid J. Published 13 April 2023. doi:10.
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