Non⁃classical 21⁃hydroxylase deficiency(NC⁃21OHD)is one of the most frequent autosomal recessive hereditary diseases. Its phenotype is usually considered diverse and lack specificity,such as polycystic ovarian syndrome(PCOS)and frequently misdiagnosed. Meanwhile,evidence ⁃ based diagnosis and follow ⁃ up management strategies faces many difficulties and many controversial scientific problems due to NC ⁃ 21OHD. We systematically discuss the clinical features,diagnosis and therapy to improve the awareness of the disease.