Congenital Adrenal Hyperplasia due to 21--Hydroxylase Deficiency in Saudi Arabia
Journal Title: Scholars Journal of Applied Medical Sciences - Year 2015, Vol 3, Issue 3
Abstract
Congenital adrenal hyperplasia (CAH) due to 21--hydroxylase deficiency is a common endocrine disorder accounting for more than 90 percent of CAH cases. As a result to the hormonal imbalance salt-wasting may occur, and predisposes affected females to prenatal development of genital ambiguity. This article discusses the clinical presentation, diagnosis and management of this disorder and highlights new developments, including genotype-phenotype correlations, screening, gene-specific pre-natal diagnosis and pre-natal therapy. Keywords: Congenital adrenal hyperplasia, Saudi Arabia, 21--hydroxylase, Deficiency.
Authors and Affiliations
Nasir A. M. Al Jurayyan, Hessah M. N. Al Otaibi, Amer O. Al Ali, Osamah A. Al Ayed, Amal A. Al Hakami, Sharifa D. A. Al Issa, Haya M. Bin Nafisah
Keywords
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