This rare genetic disorder interferes with the operation of the adrenal glands found on top of the kidneys. These glands produce the hormones that the body requires for many essential functions. Sufferers from CAH miss a key enzyme that the body uses to produce the cortisol hormone. This hormone controls how the body reacts to stressful situations. People with this disorder usually also lack a hormone vital for the retention of salt in the body. CAH diagnosis sometimes identifies this health problem in a newborn, but it could be little evidence at this stage and only becomes noticeable in adult years.
A healthy human body retains in the blood the salt that it requires efficiently functioning. An infant who suffers from Classic CAH is unable to retain all the salt their body needs. This situation occurs because their adrenal glands cannot make enough cortisol and aldosterone hormones. It is easier to identify this disorder in male children because of the telltale abnormalities in their genitals while female internal organs show no distortions. The absence of a quick diagnosis and effective treatment can have fatal consequences. In the USA and some other countries, newborn babies have a routine CAH blood test.
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