Different Types of CAH
are many different grades of severity of CAH depending on the degree of
impairment of production of cortisol and aldosterone.
In the most severe type of CAH aldosterone is completely lacking and loss
of salt from the body is the most prominent problem – salt losing CAH accounts for 80% of children with CAH.
The loss of salt in the urine is uncontrolled and can cause acute
dehydration, very low blood pressure and vomiting.
The levels of salt (sodium and chloride) and sugar (glucose) fall in the
blood, and the potassium level rises. This
is an ‘Adrenal Crisis’ needing very urgent treatment as a potentially life
the 20% of children with less severe CAH, non salt-losing CAH, the salt balance
is normal. In stressful situations,
however, some people with non-salt losing CAH may become salt losers and need
extra treatment. Girls born with non
salt-losing CAH are usually healthy, but often born with an enlarged
clitoris and the labia may be partially fused because of the excess of
testosterone. In boys, non salt-losing CAH produces no detectable signs at birth and the
diagnosis is made when the penis enlarges at a very early age along with early
pubic hair and rapid growth in height the result of high levels of testosterone.
These changes may not occur until 4 or 5 years old.
mildest form of CAH – late onset CAH
- affects women at any age. Symptoms
of unwanted hair growth or irregular periods can start at any time after
puberty. Often treatment with
steroids is not necessary in women with late
onset CAH. Instead, giving
oestrogen as in the oral contraceptive can regulate testosterone from the ovary.
In fact, the treatment of late onset CAH is usually the same as for the
polycystic ovary syndrome because the two conditions are so similar.
In men, late onset CAH usually goes unrecognised although it may cause
the sperm count to be low.
of the types of CAH above are deficiencies of the enzyme 21 hydroxylase which account for over 90% of people with CAH.
The next most common deficiency is of the enzyme 11-beta
hydroxylase. Treatment of this
type of CAH is more complicated because high blood pressure can be severe if
treatment inadequate. The balance
of treatment in 11-beta hydroxylase deficiency is very difficult and an
experienced specialist is essential. Deficiencies
of other enzymes are exceedingly rare and beyond the scope of this pamphlet.
A specialist will be able to offer more information on the rarer forms of
syndrome is an older name for CAH which is still used occasionally.
This Page was updated 30-Nov-2003
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© 2003 Adrenal Hyperplasia Network