Congenital Hypothyroidism
Conditions
Interventions
Group of patients with congenital hypothyroidism:None
Sponsors
Fujian Children’s Hospital (Fujian Branch of Shanghai Children’s Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. All subjects underwent neonatal heel blood thyroid function screening, with heel blood TSH >= 20 mIU/mL. 2. Complete venous serum thyroid function tests were conducted. Elevated TSH combined with decreased FT4 indicated a clinical diagnosis of primary permanent congenital hypothyroidism. 3. The guardians of the children were informed of the study content, voluntarily participated in the study and signed the informed consent form. Sufficient peripheral venous blood could be collected for thyroid function retesting and extraction of whole genome DNA. 4. The clinical medical records of the children were complete, enabling the complete collection of relevant clinical information such as gestational age, birth weight, delivery method, thyroid ultrasound/isotope scan results, L-T4 maintenance dose during each treatment stage, physical growth and intellectual development assessment.
Exclusion criteria
Exclusion criteria: 1. Temporary neonatal hyper TSH syndrome, temporary hypothyroidism, central (secondary) hypothyroidism; neonates with abnormal thyroid function caused by maternal thyroid disorders during pregnancy or exposure to anti-thyroid drugs. 2. Those with chromosomal disorders, genetic syndromes, intrauterine infection-induced brain damage, severe multi-organ congenital malformations, and whose growth and intellectual development assessment is affected. 3. Those who used hormones, iodine agents, etc. to interfere with thyroid function tests before enrollment; those with severe liver and kidney function abnormalities, severe infection, severe hypoproteinemia, and unreliable thyroid function test results. 4. Those with poor medication compliance, long-term non-standardized use of L-T4, and unable to obtain standardized dosage data for each stage. 5. Unqualified blood samples (hemolysis, coagulation, insufficient volume), unable to complete thyroid function tests and complete genomic DNA extraction; missing key imaging data such as thyroid B-ultrasound/isotope scanning and incomplete core clinical data such as gestational age, birth weight, and developmental follow-up. 6. Family members refused blood collection, genetic testing, and imaging examinations, did not sign the research informed consent form; long-term loss of follow-up, lacking complete growth and intellectual follow-up data. 7. Repeated cases, children with autoimmune thyroiditis and acquired thyroid damage were excluded.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Thyroid stimulating hormone; | — |
Secondary
| Measure | Time frame |
|---|---|
| Free triiodothyronine;Free thyroxine; | — |
Countries
China
Contacts
Public ContactSuhong Huang
Fujian Children’s Hospital (Fujian Branch of Shanghai Children’s Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University
Outcome results
None listed