Bolu, SemihEröz, RecepDoğan, MustafaArslanoğlu, İlknurGün, EmrahYüce, Hüseyin2020-04-302020-04-3020171309-3878https://doi.org/10.18521/ktd.341688https://hdl.handle.net/20.500.12684/2447WOS: 000419631500017The SRD5A2 gene that encodes SRD5A2 enzyme is placed on chromosome 2p23. The gene includes 5 exons that are translated into a 254-amino acid protein. To evaluate SRD5A2 gene that encodes SRD5A2 enzyme is placed on chromosome 2p23 accompany with biotinidase deficiency in case with ambiguous external genitalia. We investigated a case with ambiguous external genitalia for cytogenetic and gene mutation analysis. Gene mutation analysis and cytogenetic analysis were performed according to a standard DNA sequencing method and the present international standard nomenclature (ISCN), respectively. A Novel p.Arg179Ser (c.537 G>T) heterozygotes mutation on exon 3 of SRD5A2 gene accompany with biotinidase deficiency was detected. The chromosomal analysis result is 46, XY. This is the first case with biotinidase deficiency and novel R179S p.Arg179Ser (c.537 G>T) mutation of the SRD5A2 gene, which cause 5-alpha reductase deficiency.en10.18521/ktd.341688info:eu-repo/semantics/openAccessSRD5A2Ambiguous External Genitalia5 alpha-Reductase Type 2 DeficiencyArticle93278282N/A