Dear Herb,

You sound like a man in anguish, and I am sorry for your confusion. I don't know if you will ever find answers to all the questions you posed about your family's history, but if CAH does, in fact, play a part in your lineage, perhaps this might be a small start.

First, re the original question that you posed, "Did I give this disease to my daughter?" IF your daughter has been confirmed to have CAH, then the answer is "yes".......BUT, if it makes you feel any better, she ALSO got if from her mother. CAH is an inherited disorder, and BOTH parents have to be carriers of the defective gene, so it is something that comes from BOTH sides of the family, not just yours. But, please stop blaming yourself for something that you, and your wife, had no control over. If it makes you feel better still, carriers of the CAH gene are actually quite common, especially in certain ethnic populations. In Ashkenazi Jews, I believe the number is 1 in 10, perhaps as low as 1 in 6. ( In some cases, genes can also spontaneously mutate, but we'll assume that that's not what happened here.) So, I guess the gist of my message to you is, try not to worry about the things that you CAN'T control, but DO worry about those things that you CAN.

Which brings me to my next question: You mentioned that your daughter had been tested once for CAH, as well as for PCOS. I don't know anything about PCOS (besides what I've read on the LOCAH Board, which you've also apparently found), but what did her test for CAH show? You mentioned high androgen levels, in general, but it was unclear to me whether she actually had the ACTH stimulation test done, or just one blood draw. As far as I know, the only way to make the actual diagnosis (excepting genetic testing) is to do ACTH stim. test. Because of the enzymatic block that causes CAH, it is the COMPARISON between the hormone levels at baseline and after stimulation, that confirms a diagnosis of the condition. A single blood draw, even showing elevated levels, may not necessarily be conclusive. So, if your daughter did NOT have the stim. test done, I would suggest that she get one now, to confirm (or disprove) a diagnosis. Until you know exactly what she has or doesn't have, it's going to be difficult to know how to best treat her.

If your daughter IS found to have CAH, then she will need to be treated. Most adults with CAH take steroids (usually dexamethasone or prednisone) to treat the base medical condition. These steroids will have the effect of stopping the adrenal glands from functioning, at the same time that they will supply a proper replacement dose of cortisol. The reason why the adrenal glands have to be stopped is because the enzymatic defect cannot be corrected. CAH results when the adrenal glands cannot produce adequate cortisol and compensate by overproducing male hormones instead. So, even if your daughter makes enough natural cortisol to function on a day to day, she will still continue to overproduce male hormones, unless the cortisol production process is stopped, as well.

Women with CAH can, and do, successfully get pregnant and have children. I think the key is to get your daughter diagnosed, and treated, as soon as possible so this does not develop into a problem. From the LOCAH Board, it appears that many women are also prescribed a number of other medications, such as birth control pills and different androgen blockers, to deal with symptoms such as irregular menses or hirsutism. (One woman on the LOCAH Board was recently extolling the virtues of a facial cream called Vaniqa on unwanted hair growth, so you might want to check that out, as well.)

If you want to better understand what CAH is, and what symptoms to look for, there is a good general explanation at http://www.aafp.org/afp/990301ap/1190.html. It is written in laymen's terms and is reasonably easy to understand. It also contains a diagram of the enzymatic defect that causes CAH, which I have always found extraordinarily helpful in understanding the relationship of the different adrenal hormones to each other. Joan W., in her 12/12 post to Karen J. below ( under the thread "Reily-Renin Level") gives a good description of how to interpret the diagram. As they say, a picture is worth a thousand words.

I can't really address the "male" problems of ED, low male hormones, etc. that you described, mostly because I don't know anything about them. But, there is another article called "Update on Congenital Adrenal Hyperplasia," by Maria New, Lucia Ghizzoni, and Phyllis Speiser, which is much more technical, but contains more in-depth information about the genetics of this disorder. There is some discussion in it about those who have CAH, but have never been treated, including some talk about gonadal function in affected men. I don't know that any of it will be useful to you, but it may be a place to look for clues in order to determine whether or not CAH has a part to play in the problems you have described. You can try searching for the article at http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed. If you can't find it, feel free to email me by clicking on my name below, and I'll fax it to you.

Sorry to be so long-winded, but you sounded so miserable. Good luck to you and your daughter....I hope that you find some answers soon!