CONGENITAL ADRENAL HYPERPLASIA DIAGNOSIS STILL A CHALLENGE
Journal Title: INTERNATIONAL JOURNAL OF PURE MEDICAL RESEARCH - Year 2017, Vol 2, Issue 7
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 for reversed hybridization method for patients previously typed positive for 8bp deletion encountered in 188 Egyptian children diagnosed on clinical and hormonal basis as 21-OHD from those attending diabetes, endocrine and metabolic Pediatric unit (DEMPU), Children Hospital, Cairo University. Conclusion: Reversed Strip hybridization assay is a reliable method for diagnosis of mutations in CAH patients and has many advantages being easier and can detect more than one mutation at a time.
Authors and Affiliations
Ahmad A. Omran, S. Sharaf!, M. Hafez, Aliaa M. Higazi, Zaki M. Zaki
Keywords
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