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 ...

Phase I study of continuous oral dosing of an irreversible CYP17 inhibitor, abiraterone (A), in castration refractory prostate cancer (CRPC) patients (p) incorporating the evaluation of androgens and ...

with classic 21-hydroxylase deficiency, 39 normal subjects (20 boys and 19 girls; age range, 5 to 17 years), and 20 patients (5 men and 15 women; age range, 26 to 66 years) who had undergone ...

The most common type of CAH is 21-hydroxylase deficiency 1; for the remainder of this review, CAH indicates CAH due to 21-hydroxylase deficiency. CAH is a disease of multiple hormonal imbalances.

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 ...

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 ...