,8,104,118,123 Furthermore, DNA methylation and episignature analysis are increasingly being used to assist in the diagnosis of unsolved diseases and could serve as an additional tool for identifying or clarifying causative variants in complex DSD, such as those linked to NR5A1. 7,124, 125, 126 Finally, rareness of the DSD phenotype and specifically persons carrying NR5A1/SF-1 variants also hinders statistical approaches for small sample size. The gene discussed is SF1; the disease is disorder of sexual differentiation.