Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
Michelle Cerutti C VargasFelipe Scipião MouraCecília P EliasSara R CarvalhoNelson RassiIlda S KuniiMagnus Régios Dias-da-SilvaFlavia Amanda Costa-BarbosaPublished in: BMC endocrine disorders (2020)
NR0B1 p.Tyr378Cys segregates in an AHC family with a variable degree of adrenal and gonadal phenotypes, and its hemizygous trait explains the disease in affected family members. We recommend that NR0B1 mutation carriers, even those that are allegedly asymptomatic, be carefully monitored while reinforcing education to prevent PAI and consider early sperm banking when spermatogenesis still viable.