Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
Tuba Seven MenevseYasemin Kendir DemirkolBuşra Gürpınar TosunElvan BayramoğluMelek YıldızSezer AcarSeda Erişen KaracaZerrin OrbakAsan Onder CamasElif SöbüAhmet AnikZeynep AtayFuat BugrulAyşe Derya BuluşKorcan DemirDurmuş DoğanHamdi Cihan EmeksizHeves KirmizibekmezNurhan Ozcan MuratAkan YamanSerap TuranAbdullah BereketTülay GüranPublished in: The Journal of clinical endocrinology and metabolism (2022)
Steroid hormone profiles are highly sensitive for the diagnosis of non-CAH PAI of unknown etiology, but they are unlikely to point to a specific molecular diagnosis. TPS is an optimal approach in the molecular diagnosis of these patients with high efficacy, whereas little additional benefit is expected from WES.