مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Information Journal Paper

Title

EDITORIAL: 21-HYDROXYLASE DEFICIENCY: NEWBORN SCREENING IN IRAN?

Pages

  279-280

Abstract

 21-HYDROXYLASE DEFICIENCY (21-OHD) accounts for the cause of 90-95% of CONGENITAL ADRENAL HYPERPLASIA (CAH) cases. The world incidence of 21-OHD is 1: 20, 000 to 1: 10, 000 live births.Prevalence of CAH trends to be high due to frequent consanguineous and first cousin marriages and underestimation because of stigmatization. A range of clinical phenotypes including salt-wasting, simple virilizing and nonclassic forms is emerged due to the variable residual 21-hydroxylase enzyme activity in CAH.Enzymatic defects in steroid biosynthesis pathway leads to accumulation of the metabolic precursors and shifting to androgen synthesis.Ambiguous genitalia appear in infant girls.Basically, salt-wasting form occurs between first and third week after birth. Because of nonspecific symptoms, an accurate diagnosis is often delayed so that males with classic form are at serious risk of morbidity (including neurological damage or intellectual disability) and mortality.

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    • Cite

    APA: Copy

    MAHDIEH, NEJAT, RABBANI, BAHAREH, & RABBANI, ALI. (2012). EDITORIAL: 21-HYDROXYLASE DEFICIENCY: NEWBORN SCREENING IN IRAN?. IRANIAN JOURNAL OF PEDIATRICS, 22(3), 279-280. SID. https://sid.ir/paper/584830/en

    Vancouver: Copy

    MAHDIEH NEJAT, RABBANI BAHAREH, RABBANI ALI. EDITORIAL: 21-HYDROXYLASE DEFICIENCY: NEWBORN SCREENING IN IRAN?. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2012;22(3):279-280. Available from: https://sid.ir/paper/584830/en

    IEEE: Copy

    NEJAT MAHDIEH, BAHAREH RABBANI, and ALI RABBANI, “EDITORIAL: 21-HYDROXYLASE DEFICIENCY: NEWBORN SCREENING IN IRAN?,” IRANIAN JOURNAL OF PEDIATRICS, vol. 22, no. 3, pp. 279–280, 2012, [Online]. Available: https://sid.ir/paper/584830/en

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