In a significant advancement in endocrine research, scientists within the Endocrine Department at Ruijin Hospital have identified five novel mutations through clinical and genetic examinations of eight patients diagnosed with 17 alpha-Hydroxylase/17,20 Lyase Deficiency (17OHD). The most prevalent genotype observed was D487-F489del. Structural protein analysis and in vitro studies have unveiled a correlation between this genotype and the phenotypic presentation of the disease.
The comprehensive study spanned a three-year period, encompassing data from eight patients hailing from seven distinct families. Of the six mutations detected in the CYP17A1 gene, an impressive five were previously unreported in international literature. The genotype D487-F489del was notably identified in 36% of the cases studied, establishing it as the most prevalent.
17OHD, an autosomal recessive condition, arises from mutations in the CYP17A1 gene and is characterized as a rare form of inherited adrenal hyperplasia. With fewer than 200 cases reported globally each year, this discovery contributes valuable insights to the understanding and potential treatment of this rare disease.-Fineline Info & Tech
