Congenital Adrenal Hyperplasia

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Does my son have CAH?
Oct. 29th, 2002   12:04am

So many unanswered questions... Our son was born 4 months ago with a tiny penis and undescended testes, or so we thought. He was otherwise very healthy. We were sent to a surgeon at the Kids Hospital (Sydney), then onto an endocrinologist. So far he has had blood tests, ultrasounds, HCG stimulation, and was supposed to have a synacthen test on Thurs but after trying to put a cannula in for 3 hours, they resheduled the test.

What we have been told is that he has normal male chromosomes, makes his own testosterone, has an undeveloped teste on one side and nothing on the other, and has a "variant" in his adrenal results something to do with cortisone. We feel totally in the dark about what all this means.

Has anybody experienced these same things in a child. Is it possible he has CAH?.

Jo




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