NonClassic Congenital Adrenal Hyperplasia

Abstract

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.

Nonclassic congenital adrenal hyperplasia

“…Disease frequency is higher among Ashkenazi Jewish, Mediterranean, MiddleEastern, and Indian populations [5,6]. Among women ascertained by symptoms due to androgen excess, the reported prevalence for NCAH ranges from 0.6 to 9% [7]. However, the exact frequency for NCAH has been difficult to accurately establish due to incomplete ascertainment of all cases.…”

Cultural Impact on Medication Instructions: The Case of the Turkish Teaspoon

“…Genetic testing for 21-hydroxylase deficiency revealed heterozygosity for 2 common mutations in CYP21A2: Q318X, which is associated with classic salt-wasting CAH, and P30L, which is associated with a less severe form of CAH and is estimated to allow the enzyme to work at approximately 10% full capacity. 1 Thus, we diagnosed a very severe form of late-onset CAH because of near-total 21-hydroxylase deficiency.…”

Substitution therapy in adult patients with congenital adrenal hyperplasia

“…Dexamethasone is mainly used in non-classic CAH when therapy does not aim at glucocorticoid substitution but at sufficient and efficient adrenal suppression of early morning ACTH and subsequent 17OHP to correct irregular menstrual cycles and other symptoms of adrenal androgen excess such as acne, hirsutism and subfertility (78,84). Dexamethasone has very good effects on subfertility and menstrual cycles, however, it is not very effective in the treatment of acne or hirsutism (49,78).…”