Modern approaches to the determination of etiological forms of congenital hypothyroidism in children

Background. The article presents modern approaches to the diagnosis and choice of management tactics for congenital hypothyroidism (CH) in children. Objective. Improvement of the approaches to the determination of etiological forms of CH in children in order to optimize management tactics and follow-up care. Methods. At the first stage, the database of the neonatal screening laboratory of the State Clinical Diagnostic Center for Maternal and Child Health, which contained information on the results of re-testing of 276 children with CH born from 2004 to 2021 was analyzed. Results. Analysis of the data from the medical information system of the Regional Center for Pediatric Endocrinology (RCPE) revealed that 115 children are followed-up at the RCPE. Of these, CH type was determined in 99 children: 1st group - 67 children with CH; 2nd group - 32 children with congenital subclinical hypothyroidism (CSH). The type of hypothyroidism was determined based on retesting data during neonatal screening. Determining the type of CH or CSH as well as its form opens up the prospects for improving management tactics in CH. Conclusion. Awareness of neonatologists, pediatricians, pediatric endocrinologists about modern approaches to the etiological diagnosis of CH will let to make the right choice of the method of therapy, and in some cases abandoning hormone replacement therapy with levothyroxine.

congenital hypothyroidism, congenital subclinical hypothyroidism