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The clinical outcome of congenital hypothyroidism due to DUOX2 biallelic mutations after L-thyroxine withdrawal

The clinical outcome of congenital hypothyroidism due to DUOX2 biallelic mutations after L-thyroxine withdrawal

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2600118381
Enrollment
Unknown
Registered
2026-02-04
Start date
2026-03-01
Completion date
Unknown
Last updated
2026-02-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital hypothyroidism

Interventions

LT4 withdrawal group:None

Sponsors

Shanghai Ninth People’s Hospital affiliated to Shanghai Jiao Tong University School of Medicine
Lead Sponsor

Eligibility

Sex/Gender
All
Age
3 Years to 12 Years

Inclusion criteria

Inclusion criteria: 1. diagnosis with primary CH; 2. DUOX2 gene as the causative gene after genetic screening; 3.age more than three years old.

Exclusion criteria

Exclusion criteria: 1.patients with CH younger than three years of age; 2.patients with CH who also carried biallelic mutations of other CH-related genes except DUOX2; 3. patients with CH with central hypothyroidism and thyroid dysgenesis, including agenesis and ectopic and hypoplastic thyroid gland.

Design outcomes

Primary

MeasureTime frame
Thyroid function;Thyroglobulin;Thyroid size;

Secondary

MeasureTime frame
Weight;Height;DUOX2 residual enzymatic activity;

Countries

China

Contacts

Public ContactHuaidong Song

Shanghai Ninth People’s Hospital affiliated to Shanghai Jiao Tong University School of Medicine,

huaidong_s1966@163.com+86 139 1647 5741

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 15, 2026