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Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia

29 - September - 2021

Congenital adrenal hyperplasia (CAH) is one of the life-threatening disorders in neonates. The term CAH refers to a group of autosomal recessive disorders that result from impaired steroidogenesis in the adrenal cortex. A total of 158,486 neonates were screened for CAH from 2015 to 2020 in Lithuania and CAH was confirmed in 13 patients (12 SW, one–SV form), no false negative cases were found. The sensitivity and specificity of NBS for the CAH program were 100 %. Weight loss was significantly lower and the weight standard deviation score (SDS) at diagnosis was significantly higher in the group of screened patients.