C ongenital adrenal hyperplasia (CAH) is a frequent autosomal recessive disorder which is caused by the loss or severely decreased activity of one of five steroidogenic enzymes necessary for cortisol biosynthesis. [1][2][3][4][5][6][7][8] This disease is known to be the most common cause of ambiguous genitalia in children (60-70%) 9,10 and 21-hydroxylase deficiency (CAH-21OH) is considered to be responsible for 90-95% cases. 1-3 Clinical manifestations of CAH-21OH vary from mild to severe, depend on the residual activity of 21-hydroxylase. It is classified into three forms: salt-wasting (SW) form, simple virilization (SV) form and non-classic (NC) form. [1][2][3][4][5][6][7][8] In severe impaired steroidogenesis, the affected female will experience intrauterine virilization therefore presenting ambiguous genitalia at birth. Aldosterone deficiency will result in postnatal salt losing and cortisol deficiency will cause inadequate response to stress. These problems will put the affected infants into life threatening condition. 11,12 In partial impaired AbstractBackground Congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia in children and 90-95% cases show 21-hydroxylase deficiency. More than 100 mutations have been described and of these, four mutations have been frequently reported in Asia. Those mutations are deletion/large gene conversion (LGC), intron2 splice mutation (I2 splice), point mutations at codon 172 (I172N) and codon 356 (R356W). Genotyping is very valuable since close correlation observed between genotype and phenotype. Objective To identify phenotype and genotype characteristics of CAH due to 21-hydroxylase deficiency (CAH-21OH) and correlation between them. Methods From June to November 2006 we analyzed 37 confirmed CAH-21OH patients treated at the Department of Child Health, Cipto Mangunkusumo Hospital during the period of 1990-2006. Polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis or amplification-created restriction site (ACRS) were performed. We first identified deletion/ LGC and I172N mutation that had been mostly reported in salt wasting (SW) and simple virilizing (SV) form patients respectively. Results There were 37 patients, consisted of 6 males and 31 females with the ratio 1:5.2. Of those, 25, 10, 2 patients were SW, SV and non-classic (NC) form, respectively. PCR-RFLP or ACRS was performed to detect two mutations in 32 patients (64 alleles). Deletion/LGC was found in 6 alleles while I172N mutations in two. All deletion alleles showed SW phenotype but I172 mutated alleles showed SW and SV phenotype. Conclusion There is a consistent close association between genotype and phenotype in our CAH-21OH patients. [Paediatr Indones 2007;47:189-195].
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