Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2027867 | Steroids | 2013 | 4 Pages |
•Congenital adrenal hyperplasia is a common autosomal recessive disorder.•Presenting signs and symptoms reflect excessive androgen secretion.•ACTH stimulation tests remain the “gold standard” diagnostic test.•Treatment of congenital adrenal hyperplasia should be individualized.
Non-classic or late-onset congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence is approximately 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiology, molecular genetics, and management of this common disorder. The treatment of NCAH needs to be directed towards the symptoms. For affected children, goals of treatment include normal linear growth velocity, normal rate of skeletal maturation, “on-time” puberty. For affected adolescent and adult women, goals of treatment include regular menstrual cycles, prevention or progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.