Newborn Metabolic and Endocrine Disease Screening Program: Example of Giresun Province Between 2015 and 2020

Objective: In this study, we aimed to evaluate the cases diagnosed within the scope of the newborn metabolic and endocrine disease screening program carried out by the provincial health directorates between 2015 and 2020 in Giresun province.
Methods: In our study, the results obtained from the newborn metabolic and endocrine disease screening program between 2015 and 2020 were evaluated. Diagnoses/records between September 20th, 2021 and October 10th, 2021 were reviewed retrospectively. A total of 114 cases were identified in the 6-year period diagnosed with phenylketonuria, congenital hypothyroidism, cystic fibrosis, and biotidine deficiency.
Results: 43.9% (n=50) of the diagnosed newborns were girls and 56.1% (n=64) were boys. There was no significant difference in terms of gender distribution among those diagnosed (p>0.05). In 2015, 4 newborns were diagnosed with hyperphenylalanemia, and no newborn was diagnosed with phenylketonuria. Eleven newborns were diagnosed with congenital hypothyroidism. In 2016, 7 newborns were diagnosed with hyperphenylalanemia, one neonatal phenylketonuria, one neonatal cystic fibrosis, one neonatal biotidinase deficiency. In 2020, 4 newborns were diagnosed with hyperphenylalanemia, and no newborn was diagnosed with phenylketonuria. Four newborns were diagnosed with congenital hypothyroidism, and one newborn were diagnosed with biotidine deficiency.
Conclusion: Among the cases diagnosed within the scope of newborn metabolic and endocrine disease screening program, frequency of congenital hypothyroidism was found to be high in 2015, 2017, and 2019. It is recommended that the families of the diagnosed newborns be contacted and the current development and health status of the children be evaluated.