Congenital adrenal hyperplasia (CAH)

Posted by e-Medical PPT Monday, October 11, 2010
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes cortisol from cholesterol by the adrenal glands.Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency.Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.
The symptoms of CAH vary depending upon the form of CAH and the gender of the patient. Symptoms can include:
Due to inadequate mineralocorticoids:
    * vomiting due to salt-wasting leading to dehydration and death
Due to excess mineralocorticoids:
    * hypertension
Due to excess androgens:
    * ambiguous genitalia
    * early pubic hair and rapid growth in childhood
    * precocious puberty or failure of puberty to occur
    * excessive facial hair, virilization, and/or menstrual irregularity in adolescence
    * infertility due to anovulation

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