Editorial: 21-HYDROXYLASE Deficiency: Newborn Screening in Iran? (original) (raw)

Nejat Mahdieh1,2, PhD; Bahareh Rabbani1, PhD; Ali Rabbani*1,3, MD 1. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran 2. Faculty of Medicine, Ilam University of Medical Sciences, Ilam , Iran 3. Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran 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[1]. Prevalence of CAH trends to be high due to frequent consanguineous and first cousin marriages and underestimation because of stigmatization[2,3]. 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 infan...