17 alpha-hydroxylase deficiency is a rare congenital adrenal hyperplasia resulting from inactivating mutations in the CYP17A1 gene. This enzyme deficiency disrupts steroidogenesis by impairing ...

Background: Abiraterone acetate (Ab) is an oral inhibitor of 17 alpha hydroxylase and C17,20-Lyase, which are important in adrenal androgen synthesis. A phase I study was undertaken to define the ...

Hence, 21-deoxycortisol is a more specific biomarker of 21-hydroxylase deficiency than is 17-hydroxyprogesterone and has been incorporated into some newborn screening protocols. 24 Furthermore ...

THIS report is concerned with the delineation and biochemical demonstration of a clinical syndrome first manifest in the adult woman and resulting from an 11β-hydroxylase deficiency in the ...

By Dr. Priyom Bose, Ph.D. Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and ...