2010/01/01 by Selma F. Witchel, Ricardo Azziz · 3 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Sexual Differentiation and Disorders #Hormonal and reproductive studies #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
paper · pdf · doi:10.1155/2010/625105
openalex publication_date 2010/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/25
Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.