Optimizing Congenital Adrenal Hyperplasia Diagnosis in the National Neonatal Screening Program with Molecular Confirmatory Testing.

• Grant number: 24/17494-0
• Support Opportunities: Scholarships in Brazil - Master
• Start date: November 01, 2024
• End date: October 31, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Tania Aparecida Sartori Sanchez Bachega
• Grantee: Gabriel Junqueira Soares
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 23/11168-1 - Optimizing Newborn Screening for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: From First Test to Diagnostic Outcome and Follow-up, AP.PP

Abstract

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, which, while effective, presents a high rate of false-positive results, especially in preterm or low birth weight newborns. The inclusion of molecular tests as a confirmatory method aims to reduce diagnostic uncertainty, avoiding prolonged clinical follow-ups and additional costs. Genetic analysis will enable a more precise genotype-phenotype correlation, improving early treatment and clinical outcomes for patients. The study will be conducted in partnership with neonatal screening reference services, standardizing DNA extraction from dried blood spot samples and using molecular analysis to identify pathogenic variants in the CYP21A2 gene.