Endocrine DisordersNewborn ScreeningRUSP
Congenital Hypothyroidism
CH
Congenital hypothyroidism is thyroid hormone deficiency present at birth, most often from thyroid dysgenesis or dyshormonogenesis. Untreated, it causes irreversible intellectual disability and poor growth. Levothyroxine replacement started in the first weeks of life, guided by confirmatory testing, supports normal neurodevelopment.
- Prevalence
- 1 in 2,000-4,000
- Inheritance
- Variable (often sporadic or multifactorial)
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.