Possible CAH? Symptoms, how to test?

[D0LL]

I feel like I've been all over the boards in my short time here. ^^;
When I first came here, I was under the belief that I had to have PCOS (Poly Cystic Ovary Syndrome), although haven't been to see an actual doctor in my entire life. Just from researching online, the symptoms explained almost all of my body's general hormone dysfunction. It explained my high T/virilization, low E/P, and my inability to conceive (I wasn't trying, I just felt like my body wasn't capable of it, and so I never used birth control). However, as I've spent the past two years researching hormones and the way the human body develops, I realized there was something that PCOS didn't explain, and that was the way my body went through puberty and matured. That, and I never experienced the complications that most women with PCOS do as far as actual ovarian cysts.

Then I discovered CAH.

I don't have ambiguous genitalia by any means (unfortunately).
Puberty for me started when I was around 6 or 7 and started getting hairy. I may have had body hair before then, but this is the age where it started to become serious business. I stopped bathing with my friends and letting them see me naked because they started asking why I had hair "down there". I was constantly tormented at school, and people would tell me that I had more arm and leg hair than their fathers (which was, unfortunately, true). Although I was honestly proud as a man at-heart to have so much adult hair, the teasing was more than I could bare, and I tried everything from stealing my mom's razor so I could shave it off to trying to trim it down with scissors (with my young motor skills, this led to quite a few very bloody mishaps). I stopped wearing shorts, and when it was too hot to wear sleeves, I made sure to always hide my arms away from view.
Breast growth didn't start happening until I was maybe 9 or 10, and it happened very slowly. Even as an adult my breasts aren't fully developed. I "became a woman" at about 13, the normal age, but my body certainly did not look like that of a woman. At about 14 I had a rapid growth spurt and grew a few inches in much less than a year, and I don't believe I've really grown much since. I just remember seeing my friends in the hall at school and realizing they had been much taller than me just a few weeks before. I recently found some old pictures from around that time, and my hands and feet were abnormally large (like a man's) for my petite, almost anorexic frame. My body grew to fit in a little bit better with my large extremities, but even as a full-grown adult, I had very wide shoulders, no curve in the sides of my stomach, and absolutely NO hips. I honestly don't know how my pants ever stayed on. Pretty much a male body with small boobs. My feet are the same size as other guys my height 5'4", which seems to be about average for my female friends who are almost 6' tall. My face has always been rather ambiguous, although because I wasn't allowed to wear my hair above my shoulders (my mom didn't want me to look like a boy), people never really mistook my gender.

Other than body growth, I've always had the appetite of a boy going through puberty. Growing up in school I didn't know what it felt like to be full, and sometimes didn't eat because I felt guilty for having such a strong appetite and spending so much of my mom's money on school food (I usually had a packed lunch AND lunch money). I've always sustained a good bit of muscle for my sickly body, despite never doing sports, and could not put on body fat to save my life. People would always be very confused when they realized how strong I was for being so tiny. ^^;

I spent the entire first 19 years of my life being constantly sick. I'm not sure why my body finally started working better around 19, but before it did, I got a cold almost every month, and was constantly missing school. The younger I was, the more severe the viruses I got, to the point where my parents never even took me to the doctor's, because I guess it was too expensive. Until I entered Middle School, I got almost daily migraines, so bad that I would hallucinate I was growing real tall and flying. Why no one in my life really cared about my health at such a young age, I'll never know, but even the one time my mom took me to the doctor's for my migraines, he didn't run any tests or give me a proper exam. My entire life I've felt like I have NO energy. I've been complaining that I feel like a 70-year-old man ever since I was 12, and it only gets worse with age. At 23 now, I still have weeks where I'm so drained I have trouble making it into work, and certainly can't do anything outside of work. My lack of energy makes me unable to work full-time, and in jobs that require an exceptional amount of hard labor (I can no longer clean houses or businesses, a job that paid almost twice what I'm making currently). I've taken every vitamin known to man and nothing even helps with my energy levels (I could literally drink a 2-liter of soda before bed and the only thing that would wake me up is a full bladder).

I don't know much about CAH (there doesn't seem to be nearly as much reading on it as there is on PCOS), so I don't know exactly what symptoms of mine do and don't fit in with it. I know it affects the adrenals and wonder if it's possible that it could have caused my severe hypothyroidism last year (self diagnosed when I didn't have the strength to get out of bed for weeks on end; it took months on thyroid supplements to bring me back up to my condition beforehand). Regardless of whether the symptoms truly fit or not, I just finally got Medical Assistance, and I am anxious as hell to figure out what the f* is wrong with my body so I can maybe one day live a normal life. And CAH is the first thing I want to test for.

So, a few questions for normal people who actually know how the healthcare system works:
-What type of doctor would be able to test for something like this?
-(I feel stupid for asking but) How do you pick a doctor out? Do you just go through the phone book and find out who takes this insurance? Is there some form of website that tells you what doctors you can see with Medical Assistance?
-What kind of tests are used to check for CAH? Blood tests? Saliva?
-Anything else anyone can clarify on CAH, or "Late Onset" CAH (I really hate calling it that, since it's a genetic disorder and therefore impossible to actually be "late onset", but whatever, it is what it is).

[sad panda]

Heya D0LL, know it's frustrating but I won't give my opinion 'cuz I can't dx or not dx anyway... though I will mention, if you are close to your mom's height you probably don't have CAH, growth impairment is almost universal in CAH and it's usually about 5" or more short of target adult height. But not trying to discourage you from getting answers... hope this helps:

-What type of doctor would be able to test for something like this?

Technically any doctor, it's a pretty standard test, but a GP might not be familiar with it and you'd have the most luck with reproductive endocrinologists or if not, normal endocrinologists.

-(I feel stupid for asking but) How do you pick a doctor out? Do you just go through the phone book and find out who takes this insurance? Is there some form of website that tells you what doctors you can see with Medical Assistance?

You can try to get an appointment with a specialist right away (I would use google for that) but your best bet is to get a referral from your GP. I wouldn't mention CAH, just describe your symptoms and say you'd like to see someone who handles fertility issues.

-What kind of tests are used to check for CAH? Blood tests? Saliva?

The standard test is called an ACTH stimulation test. ACTH is a hormone that tells your adrenals to produce cortisol. In CAH, cortisol synthesis is impaired at one of the steps along the way (it needs lots of enzymes to go through the steps in the process of making cholesterol into steroids...) anyway what happens is the body overproduces one of those intermediate steroids and ends up producing way too much of several different steroids (like androgens.)

What they need to test for is your levels of those precursor steroids before and after giving you ACTH, which basically checks whether or not your body produces the right amount of cortisol and precursor steroids.

The most common form of CAH (90-95% of cases) have a deficiency in the 21-hydroxylase enzyme, which means they produce too much of the steroid 17-hydroxyprogesterone (17-OHP). The second rarest form of CAH (5-10% of cases) is the 11beta-hydroxylase deficiency, which produces too much of the hormone 11-deoxycorticosterone (DOC) 

Your dr would take your blood for these 2 hormones, as well as your cortisol level, then give you an injection of ACTH, have you wait about an hour and take blood again and compare the results. If you have an abnormal rise in one of the precursor hormones, that would be diagnostic of CAH.

-Anything else anyone can clarify on CAH, or "Late Onset" CAH (I really hate calling it that, since it's a genetic disorder and therefore impossible to actually be "late onset", but whatever, it is what it is).

Yeah, LOCAH is there from birth, but it's a milder form. CAH people usually have enzyme imbalances, and they can have salt-wasting crises that are severe and life threatening if they aren't given a hydrocortisone injection. Babies with that form of CAH (SWCAH) usually will not survive without a CAH diagnosis because they will have a salt wasting crisis early on in life. The simple virlizing form (SVCAH) may go undetected as well as LOCAH, who may only have mild or no symptoms and might not require medication. LOCAH is supposedly much more common than SWCAH/SVCAH.



Hugs and hope that helps lol (: I don't have CAH, but I did a lot of research when trying to learn about my as of yet undiagnosed adrenal problem. (which I think might actually be related to my PTSD)

[PrincessDayna]

For future inquiries, ACTH, Cortisol, DHEA, 17OHP, and progesterone are the main tests for CAH alongside a full metabolic panel, and a sodium reading. You also would know if you are CAH, the dosing sucks, and is daily for life, and most likely, if you ever injurred youraelf greatly and never had to dose with cortisol to stay alive, as well as solu cortef, you do not have CAH. It is life threatening, adrenal crises is and can happen over simple stuff like a bruise, or the flu.

In future reference, unless you are XX genetically, with 3 beta, or 21 ohd, you cannot be intersexed.

Also, growth impairment is not universal in CAH. Many salt wasters as well as non salt wasters achieve a normal height, and, in fact, some untreated forms of cah people get abnornally tall. That is incorrect info.