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Scholars Journal of Applied Medical Sciences | Volume-3 | Issue-03
Congenital Adrenal Hyperplasia due to 21--Hydroxylase Deficiency in Saudi Arabia
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
Published: May 28, 2015 |
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DOI: 10.36347/sjams.2015.v03i03.077
Pages: 1416-1421
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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 genotypephenotype correlations, screening, gene-specific pre-natal diagnosis and pre-natal therapy.