Phenotype-genotype correlation in congenital

Congenital adrenal hyperplasia (CAH) is a group of the disorders resulted from enzymatic defects in the corticosteroid synthesis. The most prevalent type is 25 hydroxylase deficiency that is due to the defect in the gene CYP21A2. The aim of this study was to determine correlation between phenotype and genotype of Iranian patients with this disorder. We reviewed the medical records of 89 patients with CAH who were investigated for their genetic aspects before. Salt wasting (SW) form was seen in 70 patients (79%), salt wasting with balanced electrolytes in 4 (4.5%), simple virilizing (SV) in 12 (13.5%) and non classical in 1 (1.1%). Interon2-interon2 (int2-int2) mutation was the most prevalent type of mutation (35%). In this group 31 from 27 patients (87%) had SW form of CAH. From 12 cases of simple virilizing type, 9 patients (75%) had Ex4 mutation. In the int2-int2 group, 7 from 15 patients (47%) had grade 4 and 4 (27%) had grade 5 of Prader staging. Fifty seven from 82 patients (69.5%) were the product of consanguineous marriages. int2-int2 mutation is the most prevalent type of mutation in this study. In this group salt wasting type and severe virilization is more common. Simple virilizing type was most often accompanied by Ex4 mutation.