FAQ - Adrenal Hyperplasia, Congenital
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Can I fight the symptoms of Congenital Adrenal Hyperplasia?

I am 13 years old and i've been researching my condition called congenital adrenal hyperplasia. The websites ive been visiting say that a symptom of this condition is that I will be tall as a child but short as an adult but I am not tall as a child and I'm wondering if it is possible to not be short as an adult.

There are endocrinologists that specialize in this treatment - or rather the treatment of growth disorders.

I have no adrenals anymore so I live with the consequences daily as well. You really need to understand the medications (corticosteroids) and how to take them, how too much can effect you and too little can be deadly. You may also need to take salt tablets (I do!) and another medication called fludrocortisone that will help you maintain your potassium and sodium. All this will help you feel better. In addition, all your hormones should be monitored so you can be the best you can be.


Contact the magic foundation as they have doctors for your parents to take you to as well as other people with your condition that can talk to you.  (+ info)

how many people are living with congenital adrenal hyperplasia?

I need to know for a project. thanks.

There is no way to know this. The frequency for CAH is one in 10-15,000 births in those countries where it has been studied (western countries). However, in developing countries in particular, most children with CAH die in the newborn period. Also, in certain countries it is much more frequent due to consanguinity (marriage within related family groups, like cousins). In Vietnam for example, CAH affects 1/2500 children. In one center in India, the frequency was 1/1200. But since most of these children will die, there is no way to come up with an accurate estimate of the number of people worldwide with CAH. These numbers also are only for classical CAH. Nonclassical CAH is very common but most people who have it genetically never develop symptoms that cause them to seek medical care. Since CAH is fairly rare, there is not a lot of studies that look at these kinds of population based data, unlike cancer or diabetes.  (+ info)

Is there anyone else on yahoo answers with Congenital Adrenal Hyperplasia?

I just want someone to kind of connect with, ya know, share experiences and stuff like that, because I'm the only one out of hundreds of people I know who has it.

You might be surprised how many other people are affected. There are online information sites that are very good. I've included two that are excellent and both have online forums or message boards where people can share experiences and information.


http://www.livingwithcah.com/  (+ info)

How similar are PCOS and non-classical congenital adrenal hyperplasia?

For almost 14 years it's seemed as though I've had PCOS. One doctor did suggest a possible adrenal disorder instead. I just had lab tests done and this doctor doesn't think I have PCOS(though I've been on Yasmin for years, could that make a difference in the tests?). So I looked up adrenal disorders and CAH came up.
Any ideas of where to look or where to go from here(I'll bring this up at my next ob/gyn appt but I was just curious until then...).

First of all these 2 conditions differ greatly in the causative factors and therefore are treated very differently. CAH is the result of an enzyme deficiency and should be easy to rule out with testing, it is most common in Ashkanazi Jews.

PCOS is known to be related to the insulin/glucose regulation in the body. PCOS is also though to be genetic, although not every woman with PCOS has a known geneic marker for it.

The symptoms of non-classical CAH are similar to PCOS and include rapid growth and premature puberty in early childhood, excessive hair growth, irregular menstrual periods, acne, and sometimes, infertility in either males or females.

As part of the standard diagnostic procedure for PCOS most physicians will run an adrenal function test (mine did) in order to rule out the less likely adrenal issues. Birth control pills should not have an impact on Adrenal testing but will have in impact on your hormone levels, lining thinckness and number of cysts in your ovaries.

If you were diagnosed as having the presence of multiple cysts in your ovaries accompanied with other symptoms of PCOS (hair growth, absence of periods etc.), glucose tolerance, insulin intolerance or elevated testosterone levels then most likely your initial diagnosis of PCOS is correct. However if you were never tested for adrenal issues you should be, as the treatment for PCOS and non-classical CAH differ markedly. Current reccomendations are that a diagnosis of PCOS should only be made after ruling out other possibilities.  (+ info)

how does congenital adrenal hyperplasia affects the social life of a person?

It is not so much a "social life" question as a lifestyle question.
It is a lifelong health issue that must be managed carefully. The person that has this must take their medications on time. They need to be careful not to overdo. They must take precautions not to get sick. If they get sick, they can get much sicker than others. They have to learn to manage with medications to adjust (stress dose) what other people's bodies do normally.
Depending on the type he/she has, she may need more salt than the normal person and need to be hydrated. He/she may not have as much energy as everyone else.
What is not a big deal for most people is a big deal for someone with CAH. Everything has to be planned around meds, hydration, rest, and making sure all is well. Adrenal crisis can be life threatening but yet one wants to have a normal life to the extent one can.  (+ info)

What is Congenital Adrenal Hyperplasia in simple words?

People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.

Without these hormones, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear  (+ info)

Does a male of 35 yr still need to take cortisone p.o. for congenital adrenal hyperplasia since age 5yr?

Have been taking this medication for 30 yrs and have osteoporosis and stomach trouble.

I assume yes you still need it but please check with your doctor.  (+ info)

H1N1 and mild congenital adrenal hyperplasia (CAH)?

With regards to the recent H1N1 flu, I would like to know whether people with mild congenital adrenal hyperplasia are at risk if they were to get infected by H1N1. I am not taking any steriods for my condition. My doctor said its not necessary. Furthermore, if they are to go overseas to a country that could be affected by the H1N1, is it advisible to get the flu vaccine?

I have severe CAH and my doctor says im at risk as much as anyone else is but its more the effects once ive gotten it
(i havent gotten it)  (+ info)

congenital adrenal hyperplasia?

was wondering if anyone else had it. or if you know any info about it.

I do not have that particular disorder, but I had my adrenals removed so I have done a lot of research on adrenals.

CAH has two types - the difference being if you have to take salt or not. They are even called Type 1 and Type 2. It is genetic. It needs to be treated very carefully as anything with the adrenals can be potentially life threatening. CAH has more issues as it also effects the male/female parts in development of children. Adrenal glands play a part in secreting a precursor hormone for androgens that become both estrogen and testosterone. I have to take DHEA since I have no adrenals.

That is where all adrenal diseases are pretty similar (although every person is different), as the patient has to take replacement steroids - the amount to be determined by the extent of the damage or if full replacement is needed - if salt is needed then salt tablets and florinef is necessary and as well, an emergency kit with an emergency injection of quick acting steroids, needle, contact numbers, alcohol pads, etc. need to be close by for those times when oral steroids cannot be taken. I also get a script for anti-emitics (such as zofran or phenergan) to keep me from throwing up as that can be dangerous for a person with adrenal issues.

Hydradation, the proper amount of salt (in my case, a high amount of salt), and taking the meds properly to mimic a healthy body is what helps feel best. It is not always easy.  (+ info)

CAH congenital adrenal hyperplasia?

how should you be tested for this?

tests for CAH would include
-blood tests to check your hormones which include the sex hormones
-a CT or MRI to look for the adrenal changes
-genetic testing to determine the sex of the patient

Laboratory Studies

* A diagnosis may be established by measuring precursor-to-product ratios during an ACTH stimulation test.
* The 17-deoxy steroids, as well as progesterone, corticosterone, and DOC, rise to 5-10 times their normal levels following ACTH stimulation. The aldosterone levels in most cases are low due to the renin suppression induced by the elevated levels of DOC and other precursor mineralocorticoids.
* Elevated progesterone, corticosterone, and DOC levels in the setting of a virtual absence of 17-hydroxyprogesterone, estrogens, and androgens are characteristic of the syndrome.
* Corticosterone typically is 50- to 100-fold higher than the reference range.
* Most patients have DOC levels greater than 100 ng/dL (normal levels being 2-20 ng/dL).
* The majority of patients (80-90%) present with hypokalemic metabolic alkalosis.
* Patients have elevated levels of 18-hydroxycorticosterone and 18-hydroxydeoxycorticosterone.
* Follicle-stimulating hormone and luteinizing hormone levels are markedly elevated, while ACTH levels are marginally elevated.
* Patients with isolated 17,20-lyase deficiency may have normal 17-hydroxyprogesterone, cortisol, and 11-deoxycortisol levels, with low levels of androgens and estrogens, testosterone, androstenedione, DHEA, DHEA sulfate (DHEA-S), and estradiol. These findings are exaggerated with ACTH and human chorionic gonadotrophin stimulation. Patients also may have normal DOC levels.
* Biochemical testing may detect heterozygosity in family members of patients with 17-hydroxylase deficiency.
o Corticosterone and 18-hydroxycorticosterone levels, as well as the 18-hydroxycorticosterone – to – aldosterone ratio, are elevated following ACTH stimulation.
o Heterozygotes may have exaggerated responses to ACTH stimulation.14
o The ratio of urinary metabolites of corticosterone to those of cortisol is low.
* Molecular genetics is highly sensitive but currently is available only in research laboratory settings.

Imaging Studies

* The diagnosis of this condition is not made by radiologic findings. However, being aware of potential radiologic findings that may have been obtained in the course of a workup for hypogonadism or ambiguous genitalia is worthwhile.
o Abdominal computed tomography (CT) scanning or magnetic resonance imaging (MRI) may reveal bilateral thickening of the limbs of the adrenal.
o Occasionally, the adrenals may have a multinodular appearance, particularly in adult patients.
o NP-59 Iodo cholesterol scans are not necessary or performed routinely. Findings are consistent with the adrenocortical hyperplasia associated with congenital adrenal hyperplasia (ie, bilateral radioisotope uptake).
* Pelvic ultrasonography reveals a lack of m ü llerian structures in 46,XY patients and demonstrates normal, but underdeveloped, m ü llerian structures in 46,XX patients. The gonads may be intra-abdominal or in the inguinal canal in 46,XY patients.

Other Tests

* In patients presenting with primary amenorrhea and sexual infantilism, karyotyping to determine the genetic sex of the patient is important. Even in genetic XY patients who have been hitherto raised as females, recognition of the genetic sex is critical, because the undescended testes in these patients invariably need to be removed surgically, given their potential for malignant degeneration over time. The associated increased risk for the development of intratubular germ cell tumors is estimated to be 40-100 times more common in the setting of cryptorchidism.  (+ info)

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