Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis

Abstract

Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Here, we report a 17OHD patient who experienced clinical adrenal crisis on day 1 after gonadectomy. Her (46,XY) genetic defect was c0.715 C > T p.Arg239-stop in exon 4 of CYP17A1, which was confirmed by targeted sequence capture/high-throughput sequencing and Sanger sequencing technology. To the best of our knowledge, 17OHD with adrenal crisis has not been reported previously, and the reason why it arose in this patient might have been inappropriate glucocorticoid administration during the perioperative period.