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More about Congenital Adrenal Hyperplasia:
Definition Causes and symptoms Diagnosis Treatment Prognosis Prevention Resources |
CAH is an inherited disorder. It is a recessive disease, which means that a child must inherit one copy of the defective gene from each parent who is a carrier; when two carriers have children, each pregnancy carries a 25% risk of producing an affected child.
In females, CAH produces an enlarged clitoris at birth and masculinization of features as the child grows, such as deepening of the voice, facial hair, and failure to menstruate or abnormal periods at puberty. Females with severe CAH may be mistaken for males at birth. In males, the genitals are normal at birth, but the child becomes muscular, the penis enlarges, pubic hair appears, and the voice deepens long before normal puberty, sometimes as early as two to three years of age.
In the severe salt-wasting form of CAH, newborns may develop symptoms shortly after birth, including vomiting, dehydration, electrolyte (a compound such as sodium or calcium that separates to form ions when dissolved in water) changes, and cardiac arrhythmia.
In the mild form of CAH, which occurs in late childhood or early adulthood, symptoms include premature development of pubic hair, irregular menstrual periods,
unwanted body hair, or severe acne. However, sometimes there are no symptoms.
— Jennifer Sisk
