The Journal of Practical Medicine ›› 2023, Vol. 39 ›› Issue (1): 1-5.doi: 10.3969/j.issn.1006⁃5725.2023.01.001

• Review •     Next Articles

Clinical diagnosis，treatment and progress of non ⁃ classical 21 hydroxylase deficiency 

ZHANG Ying，LIU En.   

  1. Department of Endocrinology and Metabolism，the Third Affiliated Hospital of Guangzhou Medical University， Guangzhou 510150，China

  • Online:2023-01-10 Published:2023-01-10

Abstract:

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.

Key words:

congenital adrenal hyperplasia, nonclassic 21?hydroxylase deficiency, 17?hydroxyproges? terone, CYP21A2 gene, polycystic ovary syndrome, fertility