Ruijin Hospital Unveils Five New Mutations in Rare Adrenal Hyperplasia Study

In a groundbreaking study, Ruijin Hospital’s Endocrine Department researchers identified five novel mutations in 17 alpha-Hydroxylase/17,20 Lyase Deficiency (17OHD), a rare inherited adrenal hyperplasia. The research, spanning three years and encompassing eight patients from seven families, unveiled six mutations within the CYP17A1 gene, with five being previously unreported. The D487-F489del genotype emerged as the predominant variant, accounting for 36% of the cases. Structural and in vitro analyses have shed light on the genotype-phenotype correlation, advancing our understanding of this condition that affects less than 200 individuals globally each year.