Highlights & Basics
- Congenital adrenal hyperplasia (CAH) is suspected in females who are virilized at birth, who become virilized postnatally, or who have precocious puberty or premature adrenarche.
- Males with virilization in childhood and infants of either sex with a salt-wasting crisis in the first 4 weeks of life are likely affected with CAH.
- The diagnosis is confirmed by biochemical findings, such as an unequivocally elevated serum concentration of 17-hydroxyprogesterone.
- Serum concentrations of delta-androstenedione and progesterone are increased in males and females with 21-hydroxylase-deficient CAH.
- Serum concentrations of testosterone and adrenal androgen precursors are increased in affected females and prepubertal males.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Images
Gene map of two homologs: CYP21A2 (the active gene) and CYP21A1P (the pseudogene). Noncorrespondent bases number less than 90 over a distance of 5.1 kb of DNA. Numbered are the pseudogene base changes that are frequently identified on mutant CYP21A2 genes responsible for 21OHD. Mutations associated with NC21OHD are indicated with black squares (exons 1, 7, 8, and 10)
Scheme of adrenal corticosteroid synthesis
Skin before and after treatment with dexamethasone for 3 months
Male-pattern baldness typical of females affected with nonclassical 21-hydroxylase deficiency
Nomogram relating baseline to ACTH-stimulated serum concentrations of 17-hydroxyprogesterone. The scales are on log^10. A regression line for all data points is shown
Prader Score: degree of virilization of the external genitalia of females as proposed by Prader. In type I, the only abnormality is a slight enlargement of the clitoris. In type V, there is a markedly enlarged phallus with a penile urethra
Citations
White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000 Jun;21(3):245-91.[Abstract][Full Text]
Pang SY, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1988;81:866-74.[Abstract]
Ogilvie CM, Crouch NS, Rumsby G, et al. Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin Endocrinol. 2006;64:2-11.[Abstract]
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