Case report: 17α− hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients

• প্রধান লেখক: Jinying Li (লেখক), Qiang Zhang (লেখক), Jing Chen (লেখক), Xingjiao Fu (লেখক), Jingpin Yang (লেখক), Lijun Liu (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

17α-Hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. It is characterized by impaired adrenal and gonad steroid biosynthesis. Affected patients present with hypertension, hypokalemia, and disorders of sexual development. Here, we...