Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis
Authors' conclusion
Despite high rates of neurodevelopmental sequelae, no differences were found between early and late diagnosis groups. Further research is needed to assess the impact of delayed diagnosis on neurological outcomes in newborns with CCH. Improved strategies for detecting CCH in newborns are also necessary.
Study context
- Population
- Patients diagnosed with central congenital hypothyroidism (CCH) in 1987–2021, 9 pediatric endocrine units in Israel54 males
- Participants
- 94 patients
- Exposure
- Early vs late diagnosis of CCH
- Outcome
- Prevalence of CCH in Israel
Methodological detailsmulticenter, retrospective chart review, 9 pediatric endocrine units, newborn screening (NBS) results retrieved from the national NBS program dataset
- Multicenter
- Retrospective chart review
- 9 pediatric endocrine units
- NBS results retrieved from the national NBS program dataset
Main finding
As reported in the abstract
CCH prevalence in Israel
CCH prevalence
about 1:42 800 live births
Observational data: associations, not effects.
Further findings
Newborn screening and timing of diagnosis
- Newborn screening and timing of diagnosis — Infants detected by NBS
- 3
- Newborn screening and timing of diagnosis: early diagnosis due to hypopituitarism; late due to growth and developmental delays
Clinical features
- Multiple pituitary hormone deficiencies
- 84%
- Isolated CCH
- 16%
- Median age at diagnosis
- 50 days (range, 1-8760)
- Moderate to severe hypothyroidism
- 66%
Neurodevelopmental sequelae
- Mental retardation
- 12%
- Learning difficulties
- 18%
- Delayed speech
- 27%
- Motor clumsiness
- 19%
- No significant differences in outcomes between early and late diagnosis
Original publication
Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis. J Clin Endocrinol Metab. Published 15 July 2024. doi:10.
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