THE IMPORTANCE OF NEWBORN SCREENING FOR THE DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA: LITERATURE REVIEW

Abstract

Introduction: Congenital adrenal hyperplasia (CAH) is a metabolic condition that involves many different clinical manifestations and specificities, caused by genetic abnormalities that are associated with phenotypic enzyme deficiencies. It is one of the many pathologies included in the Brazilian newborn screening, demonstrating its importance. Objectives: Present a bibliographic review about the importance of newborn screening in diagnosing CAH, emphasizing the physiopathology of the disease and its epidemiologic and social relevance. Method: A literature review was done using the following databases: Biblioteca Virtual em Saúde (BVS), Scielo, PubMed and Lilacs. Results: The early diagnosis of CAH is crucial to the reduction of complications from this pathology, being that the neonatal screening is mainly aimed at detecting the classic salt-wasting form that is the most serious and potentially life-threatening form for the child. Conclusion: Expanding the screening tests and making them more widely available to the population is essential to minimize the risks.