re: re: detecting Late Oneset CAH at birth
Apr. 4th, 2003   3:43pm

I agree - late on set (usually means - later in life - not at birth - non-classical or non-salt wasting) and is the milder form for CAH.  At birth - is the classical salt wasting form of CAH.  It is defected with newborn screening tests.  They test the blood for the 17-OHP levels.  If too high - CAH is suspected. 

Yes - some very mild forms of CAH - do not need medication.  I was shocked to hear that because my children have the severe form of CAH. 

I would be very careful about the growth and infertility issues when NOT giving medications - classical or non-classical. Not to mention = adrenal crisis.  Illness can be fatal (death) for a CAH person.

CAH - and not treated - is fatal if the person can not make enough cortisol from the adrenal gland.  A normal person makes 4 to 10 times more during illness. The salt wasting form - the person will die if not more cortisol is given during illness (fever, vomiting, diahrea, injury, surgery). 

Signs to watch for as the baby grows - weight lost, vomiting, sleeping too much, tired, listless - like a rag doll, low blood pressure, dizzy, rapid growth (but they end up as short adults), early puberty, acme (skin problems); excess hair (face, back, etc).  Non-classical (on-set CAH) is usually found in the teenage years - bad acme (skin breaks out, facial fair in girls)... due to the hormone imbalance (not enough cortisol and too much male hormones) and that is why they call it on-set because it does not display symptoms until the child is older - some times as early as 3, 4, 5 years or 7 years.... or pre-teen years - 9, 10 (then some doctors dismiss it as early puberty - and they are DEAD wrong).  Be CAREFUL.... it can be fatal or a quality of life issue (short adult - say 4 feet tall... because they grow rapid as a child and the bone fuse too early - NOT A GOOD THING FOR A BOY - they can be teased!! and then they can be infertile - this is you child and your responsibility!!)

Can confirm the tests - with further genetic testing (blood test) taken locally and send to Dr. Maria New in New York City.

 

roberta
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