Which physical findings are characteristic of congenital adrenal hyperplasia (CAH)?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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See the list below:

  • Deficiencies of enzyme activity involved in cortisol synthesis result in elevations in concentrations of corticotropic hormone (previously adrenocorticotropic hormone [ACTH]) that often cause hyperpigmentation. This hyperpigmentation may be subtle and is best observed in the genitalia and areolae.

  • In virilizing forms (ie, 21-hydroxylase deficiency, 11-beta-hydroxylase deficiency, and 3-beta-hydroxysteroid dehydrogenase deficiency), female patients have ambiguous genitalia at birth that range from complete fusion of the labioscrotal folds and a phallic urethra to clitoromegaly, partial fusion of the labioscrotal folds, or both, as shown in the images below.

  • This virilization results from the abnormally high concentrations or steroidogenic precursors that are converted to potent androgens, testosterone, and dihydrotestosterone. Dihydrotestosterone is most potent in terms of virilizing the external genitalia and is synthesized from testosterone by 5-alpha reductase, an enzyme that resides in skin of genital tissue. Recently, human steroidogenic tissues have been shown to have the capability of converting precursors like progesterone and 17-OH progesterone to dihydrotestosterone through a "backdoor pathway" that does not involve testosterone in the pathway. [14, 15, 16]

    A female patient with the 46,XX karyotype with mil A female patient with the 46,XX karyotype with mild virilization due to congenital virilizing adrenal hyperplasia secondary to 21-hydroxylase deficiency. Despite the mild clitoromegaly, this patient has fusion of the labial-scrotal folds and salt wasting.
    Severe virilization in a female patient with the 4 Severe virilization in a female patient with the 46,XX karyotype with congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. This patient also has salt wasting.
  • In relatively nonsevere forms, genitalia may be normal at birth, but early pubic hair and clitoromegaly (often accompanied by tall stature) may appear in childhood.
  • In mild forms, excess facial or body hair often appears.

  • Male patients with 21-hydroxylase deficiency have normal genitalia but may develop signs of dehydration at age 1-4 weeks if they have salt wasting or may have no problems in infancy but develop a salt-wasting crisis with illness during childhood (classic salt-wasting adrenal hyperplasia). Less-severely affected males may present with precocious development of pubic hair, phallic enlargement, and accelerated growth and skeletal maturation in childhood (simple virilizing adrenal hyperplasia).

  • Ambiguous genitalia or female genitalia are also observed in male patients with 3-beta-hydroxysteroid dehydrogenase deficiency, 17-hydroxylase deficiency, and StAR deficiency.

  • High blood pressure and, sometimes, hypokalemia may be observed in individuals with 11-beta-hydroxylase deficiency and 17-hydroxylase deficiency. These findings are due to the accumulation of the mineralocorticoid deoxycorticosterone.

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