Novel nucleotide insertions in two unrelated Indian patients with 5α reductase 2 deficiency leading to premature termination of SRD5A2 enzyme

- c.188_189insTA in exon 1 of SRD5A2 gene leads to premature termination of protein.
- We identified de novo mutations in our patients.
- There is no history of gender change in our patients with partial virilisation.