Hormonal profiles in Italian late-onset adrenal hyperplasia correlate with HLA class III polymorphisms

To investigate the genetic polymorphisms of the HLA region in late-onset adrenal hyperplasia, 13 Italian patients affected by the disease were analyzed for: (1) HLA-A and-B typing; (2) restriction fragment length polymorphism (RFLP) of DR β, DQβ, DQα, 21-hydroxylase A and B genes; (3) fourth complement fraction loci A and B (C4A and C4B), second complement fraction (C2) and properdin B factor (Bf) complement typing; (4) hormonal characteristics associated with some HLA haplotypes. HLA alleles B14 and DRβ1 were found to be significantly more frequent in patients with respect to controls (relative risk: 8.7 and 7.2, p < 0.001 and p