Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.
Melek YıldızEmregul IsikZehra Yavas AbaliMehmet KeskinMehmet Nuri OzbekFirdevs BasSeyit Ahmet UcakturkMuammer BuyukinanHasan OnalCengiz KaraKarl-Heinz StorbeckFeyza DarendelilerAtilla CayirEdip UnalAhmet AnikHüseyin DemirbilekTugba CetinFatma DursunGonul CatliSerap TuranHenrik FalhammarTugba BarisAli YamanGoncagul HaklarAbdullah BereketTülay GüranPublished in: The Journal of clinical endocrinology and metabolism (2021)
NC-11βOHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11βOHD.