Graduated in Medicine from the Federal University of Pelotas (20132018). Completed a medical residency in Pediatrics at Hospital Pequeno Príncipe (20192022) and a medical residency in Pediatric Endocrinology at the Federal University of Paraná (20222024). Currently pursuing a Ph.D. in Endocrinology at the University of São Paulo (2024Present). (Source: Lattes Curriculum)
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This study aims to optimize the diagnosis of Congenital Adrenal Hyperplasia (CAH) in the National Neonatal Screening Program through molecular confirmatory tests. CAH is an autosomal recessive genetic disorder that affects the production of essential hormones in the adrenal glands, mainly caused by 21-hydroxylase deficiency. The current screening program uses 17OHP measurement in blood, w…
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