Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study

CONCLUSIONS: Genetic analyses and functional assays do not explain the observed wide phenotype of individuals with these novel NR5A1/SF-1 variants. In nine individuals, additional likely disease-causing variants in other genes were found, strengthening the hypothesis that the broad phenotype of DSD associated with NR5A1/SF-1 variants may be caused by an oligogenic mechanism.PMID:38623954 | DOI:10.1210/clinem/dgae251
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Source Type: research