الفهرس 
Title : CYP21A2 gene mutations in Egyptian children with congenital adrenal hyperplasia : Method evaluation
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Abstract
Background: Congenital adrenal hyperplasia is one of the main pediatric referent, due to genital ambiguity and mortality of neonates as a result of dehydration and shock. The matter is exacerbated by high degree of consanguinity in our population. Newborn screening for CYP21A2 gene mutations can minimize delay in diagnosing, reducing morbidity and mortality from adrenal salt-wasting crises. Therefore, there is a need to establish a rapid, convenient prenatal screening method for diagnosis of CAH cases in Egypt. Objective: The study is designed to confirm the results of reversed hybridization method for patients previously typed positive for one or more of the 3 common mutations in CYP21A2 gene; p.P30L (c.89C>T), I2 Splice (c.290-13A/C>G) and 8bp deletion encountered in 30 Egyptian children diagnosed on clinical and hormonal basis as 21-OHD CAH from those attending diabetes, endocrine and metabolic pediatric unit (DEMPU), children hospital, Cairo university. Methods: Confirmation was done using allele specific PCR. Results: ASPCR and Strip hybridization showed nearly the same results, with perfect agreement for P30L and 8bp deletion mutation, and substantial agreement for I2 Splice mutation. Conclusion: Reversed Strip hybridization assay is a reliable method for diagnosis of mutations in CAH patients and has many advantages over ASPCR including being much faster (7 hours), easier and can detect more than one mutation at a time