View Full Version : Hello everyone!
Greetings to all!
I've just joined this forum because I have a son with CAH and I'd like to learn as much as I can about it.
Here goes my very first question; based on what I've read thus far in this forum, it appears to be assumed that all CAH suferers have both male and female characteristics; though I'm not absolutely sure in regards to his sexual orientation, my grown up son, who was diagnosed with CAH at 45 days of age, is all male. So, reading a post that states that CAH is a condition that causes people to exhibit dual gender characteristics throws me off; can anyone please enlighten me in this regard?
Thanks guys.
CAH does not mean that you have male and female characteristics. While that can happen, it simply means that the adrenals do not function properly in providing the correct hormones and just produce whatever they can.
In a female, this usually means they become virilized as most of the hormones produced are androgens, like testosterone.
In a male, unless symptoms are quite severe CAH is usually silent until later. You don't really know it is there. There can be some female characteristics however as if enough testosterone is being produced some could aromatize to estradiol, the primary estrogen. That would probably present itself as early breast development, along with the androgen excess, you would see some precocious development, early puberty.
The big worries though is the lack of the adrenal hormones. These can be very severe and even deadly. The body mediates responses to stress and allergies and things with cortisol and with CAH it cannot make enough. It just pumps out more of the wrong hormones.
Since your boy is grown he should be fine. He may need medication to replace the missing cortisol or other hormones that he may be lacking. It depends on which specific enzyme pathway is broken.
Hi all,
Guy wrote,
based on what I've read thus far in this forum, it appears to be assumed that all CAH suferers have both male and female characteristics
What happens in CAH is that the adrenal glands are blocked (usually only partly) from making cortisone, so they become overactive in response to signals from the pituitary gland that say, in effect, "make more cortisone". The overactivity includes making more testosterone-like substances. In a genetically female (i.e. XX) child, that can lead to masculine anatomical characteristics at birth and virilization after birth. In severe cases, XX persons with CAH have lived their entire lives as boys.
In a genetically male (XY) child, the excess virilization usually shows up as what appears to be premature puberty. In most forms of CAH, there is no
feminization of XY boys. The problems are 1.) Too early exposure to androgens, which can make the child grow fast early on but cause a shorter than average adult height and 2.) deficiency of cortisone. Of course, a little extra androgen is much less of a problem for a boy than for a girl.
Friendly greetings to all,
Peggy
• • • • • • • • • • • • • • • • •
"When art critics get together they talk about Form and Structure and Meaning. When artists get together they talk about where you can buy cheap turpentine." - Pablo Picasso
It is important NOT to confuse three completely independent entities:
1 - Physical sexual characteristics - what specific male or female structures, hormones, etc. are present in the physical body.
2 - "Gender Expression" - the child/persons expression of a femining or masculine personality, behavioural characteristics, etc.
3 - Sexual orientation - the person's preference for a partner in intimate personal relations
The three factors are TOTALLY independent and may range from one extreme to the other or be anywhere between the extremes.
Although the majority of people all tend "to be in agreement" (i.e. female, feminine, and attracted to men) it is certainly NOT universal. Diversity is the rule of nature.
...people all tend "to be in agreement" (i.e. female, feminine, and attracted to men)...
I suspect that at least half the population might disagree with that ;) :outtahere
Kailana
02-17-09, 10:17 PM
Would it much of a trouble to ask what form of CAH your son has? Or if both you and the mother have been tested for CAH or tested to see if your just Carriers? See alot of the information on CAH can be missleading, because it will honestly depend on what variation of CAH is present. The most common form of CAH is 21Hydroxylase Steroid Deficiency. 90% of diagnosed CAH people have that form. Which means for the majority of those people, what is generally thrown about as relavent information holds true. There are several forms of CAH however that influence the body differently. The informaton relavent to your son will only if he has one of the variants known to also cause CAH, but have other traits. Generally lack of Cortisol applies to most forms of CAH, adrenal crisis is the main worry and for some salt wasting. Some of the others though, affect other hormones and steroids. There are also 3 forms of CAH, with variants and known alterations that can cause feminization in a genetic male. Those forms usually are noticed at birth, because they also will cause ambiguous genitalia, and in some cases a CAH child is assumed to be XX CAH, and turns out to be XY CAH. However you don't really hear about that much, as those forms/variations are much rarer.
I suspect that at least half the population might disagree with that ;) :outtahere
I meant that for the majority of people, the physical sex, gender, and orientation are complimentary to each other, not that the majority of people would agree with my statement.
Where Intersex is involved, the chance of all three factors 'pointing in the same direction' is much less.
Guys,
You can't imagine how grateful I am for your responses; each and everyone has helped me have a better understanding of my son's condition. Thanks to all once again.
Kailana; my son's CAH is the salt-wasting type. At 11 days of age he started vomiting and two days later he had shrank to half his size due to dehydration. It took US Army doctors over a month to diagnose him with what they originally described as a "missing or malfunctioning adrenal gland". It was later, after I got out of the military (a few months after my son's birth) that civilian doctors started calling his condition "Congenital Adrenal Hyperplasia". I you gys don't mind sharing, are any of you CAH patients? Or are you (like me) here only because you know someone with CAH?.
Though it's not my intention to undermine anyone's input, the reason I asked the above question is because I'd really like to learn more from those who haved experienced and/or have been treated for CAH.
Thanks a lot guys, and have a great day!
I meant that for the majority of people, the physical sex, gender, and orientation are complimentary to each other, not that the majority of people would agree with my statement.
Where Intersex is involved, the chance of all three factors 'pointing in the same direction' is much less.
Sorry, I was having a silly five minutes. I didn't mean to cause offence.
Sorry, I was having a silly five minutes. I didn't mean to cause offence.
No offence taken. I just want to be clear.
I am not easily offended - the best have tried ;)
fraulein_Maria
02-20-09, 09:13 PM
[QUOTE=Guy69;19418]Guys,
are any of you CAH patients?
>>> 43 y/o sw-3beta XX-CAH gal :) got at least one bro who's a simple virilizer. Feel free to PM with your concerns. :)
What's your experience with Desoxycorticosterone Pivalate? Were you ever treated with it?
fraulein_Maria
02-23-09, 08:53 PM
What's your experience with Desoxycorticosterone Pivalate? Were you ever treated with it?
>>> no sir. i take prednisolisone (prednisone).
i would prefer to take hydrocortisone as it has higher mineralcortical activity than any of the others (necessary if you waste any salt) aswell as short acting glucocortical activity. Its my understanding that the drug you describe would be prescribed for 11-beta's. However, if you like, i could consult a CAH woman who also happens to be a pharmacist :) Amy's really cool people, and doesn't mind anyone picking her brain.
fraulein_Maria
02-23-09, 09:40 PM
What's your experience with Desoxycorticosterone Pivalate? Were you ever treated with it?
>>> i just posted your Question for Amy, but i remembered this link.....
http://www.vivo.colostate.edu/hbooks/pathphys/endocrine/basics/steroidogenesis.html
which shows the both the steroid hormones and the enzyme pathways. It appears that natural Desoxycorticosterone (sans pivalate... pivalate being attached to make the drug/hormone stay in your body longer) is the hormone the body makes IF you make the 21-hydroxylase enzyme. the body would then use other enzymes (11-beta for instance) to transform it into either aldosterone, or cortisol, whichever the body needed. most of it would go to cortisol production, as the body uses far more of it.
It sounds like it would be really cool to use..... far less dangerous than cortisol analogues ( Dexamethasone being 14 times more powerful than natural cortisol..... will completely blow your adrenals to hell if you take it too long..... and prednisone is eating my bones while making me vulnerable to every infection) though probably expensive.
I'm ready to sign up if there doing trials on it, unless Amy comes back with a reason not to.
Reason I asked is because everything on it seems to be related to dogs. But my son was injected with it for several years.
fraulein_Maria
02-25-09, 05:34 PM
[QUOTE=Guy69;19443]Reason I asked is because everything on it seems to be related to dogs. But my son was injected with it for several years.
>>> sounds like he was part of a clinical trial. i would have a chat with the prescribing doctor. I'm actually rather excited. :) Did it seem to help? did it seem better, or have fewer side effects than cortisol analogues?
Amy hasn't posted yet. if she doesn't by tommorrow, i will send her a private e-mail.
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