Congenital hypothyroidism
Conditions
Interventions
Sponsors
Eligibility
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
| Measure | Time frame |
|---|---|
| Thyroid function;Thyroglobulin;Thyroid size; | — |
Secondary
| Measure | Time frame |
|---|---|
| Weight;Height;DUOX2 residual enzymatic activity; | — |
Countries
China
Contacts
Shanghai Ninth People’s Hospital affiliated to Shanghai Jiao Tong University School of Medicine,