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Congenital hypothyroidism in Turkey: a retrospective evaluation of 1000 cases
Insights
Delayed diagnosis of congenital hypothyroidism is common, with most children presenting after age two. Early detection through neonatal screening is crucial for preventing developmental issues like growth failure and speech delays.
Area of Science:
- Pediatric Endocrinology
- Neonatal Health
- Genetics and Development
Background:
- Congenital hypothyroidism (CH) is a condition present at birth that can lead to developmental delays if untreated.
- Early diagnosis and treatment are critical for optimal outcomes in affected infants.
- Historical data on CH diagnosis and presentation in Turkey is limited.
Purpose of the Study:
- To evaluate the diagnostic patterns and clinical presentations of 1000 children with congenital hypothyroidism.
- To identify the age at diagnosis, common complaints, and physical findings in a large cohort.
- To underscore the need for improved newborn screening for CH in Turkey.
Main Methods:
- Retrospective analysis of 1000 CH cases managed between 1964 and 1989.
- Review of patient records for age at diagnosis, presenting complaints, and clinical signs.
- Statistical evaluation of demographic and clinical data.
Main Results:
- The mean age at diagnosis was 49.22 months; 55.4% were diagnosed after age two.
- Key complaints included growth failure (26.7%), inability to speak (21.4%), and inability to walk (18.1%).
- Common findings were hypotonia (72%), constipation (66.8%), cretinoid facies (64.6%), and macroglossia (64.6%).
Conclusions:
- Diagnosis of CH in Turkey during the study period was significantly delayed.
- Clinical presentation often included severe developmental delays, indicating late detection.
- Implementation of routine neonatal screening programs is essential for early CH detection and management.
Abstract:
In this retrospective investigation, 1000 cases of congenital hypothyroidism followed-up in the Pediatric Endocrinology Unit at Hacettepe University Children's Hospital between 1964-1989 were evaluated with respect to age at diagnosis, main complaints, symptoms and physical findings. The mean age at diagnosis was 49.22 months, with 55.4 percent of patients diagnosed after two years of age and only 3.1 percent during the neonatal period. The main complaints of the patients were growth failure (26.7%), inability to speak (21.4%), and inability to walk (18.1%). The physical signs and symptoms most commonly detected by the physician were hypotonia (72%), constipation (66.8%), cretinoid face (64.6%), and macroglossia (64.6%). These results emphasize the necessity for routine neonatal screening programs to be established in Turkey, with the aim of detecting congenital hypothyroidism.