Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal
An erratum to this article was published (Thyroid, Oct 2025 ↗)
Authors' conclusion
Some patients with CH and DUOX2 biallelic mutations may have TCH or hyperthyrotropinemia.
Study context
- Population
- Chinese patients with primary CH due to DUOX2 biallelic mutations, reevaluated after levothyroxine (LT4) withdrawal after 3 years of age; 181 patients with primary CH initially screened181 initially screened
- Participants
- 28 patients
- Exposure
- PCH vs transient CH (TCH) vs Hyperthyrotropinemia
- PCHn = 7
- TCHn = 6
- Hyperthyrotropinemian = 15
- Outcome
- Clinical outcome after LT4 withdrawal:
- PCH
- TCH
- Hyperthyrotropinemia
Methodological detailsgenetic screening, LT4 withdrawal reevaluation after 3 years of age
- Genetic screening
- LT4 withdrawal reevaluation after 3 years of age
Main finding
As reported in the abstract
Clinical outcome after LT4 withdrawal · median follow-up 17.5 months (IQR: 8.5, 29.25)
Observational data: associations, not effects.
Further findings
- LT4 dose · ages 2, 3 and pre-withdrawal · PCH vs TCH · age 2; higher in PCH
- P = 0.027
- LT4 dose · ages 2, 3 and pre-withdrawal · PCH vs TCH · age 3; higher in PCH
- P = 0.003
- LT4 dose · ages 2, 3 and pre-withdrawal · PCH vs TCH · pre-withdrawal; higher in PCH
- P = 0.025
- TSH normalisation in hyperthyrotropinemia · >1 year off LT4
- 44.4%
DUOX2 residual enzymatic activity vs clinical outcome
- Correlation between DUOX2 residual enzymatic activity and clinical outcome not clear
Laboratory findings at diagnosis
- No significant differences among the three groups
LT4 dose · ages 2, 3 and pre-withdrawal
- LT4 dose decreased with age in TCH but remained stable in PCH
Tg and thyroid size after LT4 withdrawal
- Serum Tg and thyroid size increased in most patients (especially hyperthyrotropinemia), often persisting for months
Original publication
Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal. Thyroid. Published 8 September 2025. doi:10.
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