Related Experiment Videos
Long-term consequences of congenital hypothyroidism in the era of screening programmes
Annette Grüters1, Anja Jenner, Heiko Krude
1Paediatric Endocrinology, University Children's Hospital Charité, Augustenburger Platz 1, 13353, Berlin, Germany.
Insights
Newborn screening for congenital hypothyroidism (CH) enables normal development in most cases. However, some patients experience developmental issues due to factors like genetic defects affecting thyroid and brain development.
Area of Science:
- Endocrinology
- Developmental Biology
- Genetics
Background:
- Newborn screening for congenital hypothyroidism (CH) is a medical success, leading to normal development for most infants.
- Despite early diagnosis and treatment, 10% of CH patients exhibit residual neurodevelopmental issues.
Purpose of the Study:
- To investigate the factors contributing to suboptimal outcomes in CH patients.
- To explore the molecular basis of CH and its impact on both thyroid and central nervous system (CNS) development.
Main Methods:
- Review of existing studies on CH outcomes.
- Analysis of molecular genetic findings in CH patients with persistent neurodevelopmental deficits.
Main Results:
- Factors like late onset, inadequate hormone dosage, poor socioeconomic status, and compliance issues correlate with poorer outcomes.
- Severity of CH at diagnosis may impact outcomes, though this is not fully settled.
- Molecular defects in transcription factors affecting both thyroid and CNS embryonic development are identified in some CH cases.
Conclusions:
- Understanding the molecular basis of CH is crucial for explaining poor outcomes despite newborn screening.
- Advances in molecular diagnostics will improve patient counseling and care for CH.
Abstract:
Newborn screening for congenital hypothyroidism (CH), is one of the major achievements of medicine because early diagnosis and treatment has resulted in normal development in the vast majority of cases. However, all studies on outcome report up to 10% of patients with residual problems regarding mental development and neurological symptoms despite early diagnosis. Factors clearly associated with a less favourable outcome are late onset and an inadequate dosage of thyroid hormone substitution, a poor social-economic environment and compliance problems, while the impact of severity of CH at diagnosis on outcome is not completely settled, although most studies demonstrate a correlation between severity of hypothyroidism and poorer outcome. More recently in a few cases the molecular basis of CH has been clarified. It has become evident that, in some patients with persistent mental retardation and neurological symptoms, defects in transcription factors which are expressed in the thyroid gland as well as in the central nervous system (CNS) during embryonic development cause both defective thyroid and CNS development. The clarification of further molecular defects which affect the thyroid gland and brain development will help us to understand the poor outcome of patients with CH in the era of newborn screening and these diagnostic advances will ensure adequate counselling and care for these patients.