5-alpha reductase converts testosterone to dihydrotestostrone. SRD5A2 mutation leading to deficiency of 5-alpha reductase causes a disorder of 46,XY sex development named 5-alpha reductase type 2 deficiency. Due to deficit of this enzyme, female external genitalia is common sign of disease in 46,XY individuals. SRD5A2 mutations have been reported in different ethnicities. Here, mutations of this gene are reported in Iranian subjects. Affected individuals were subjected to study in this survey. Clinical data were documented. Genetic analyses including karyotype and direct DNA sequencing of the exons and flanking regions of SRD5A2 were performed for the patients. Bioinformatics analyses were also done for unknown variants. Ambiguous genitalia was confirmed by pediatric endocrinologist. Three known pathogenic variants, c.145G>A, c.271T>C and c.476T>G and one novel variant, c.272A>G, were found to cause disorder. In silico analysis predicted pathogenicity of the variants. SRD5A2 may be a common cause of ambiguous genitalia in our country. Bioinformatics tools could provide more information about pathogenicity of SRD5A2 mutations.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology