RC12.3 - LBA_ECE_1400 - Profiling of CYP17A1 mutations defines the molecular basis of partial enzyme deficiencies
17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia characterized by hypertension, hypokalemia, and sexual infantilism. Its spectrum ranges from complete deficiency to partial forms with spontaneous puberty and fertility, yet the molecular basis of this heterogeneity r...