Adrenal Hyperplasia

Question: 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...).

Answer: 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.

Question: What is a adrenal hyperplasia ? & how dangerous is it?

Answer: Congenital adrenal hyperplasia (CAH) is a group of inherited disorders involving abnormal production of the steroid hormones — cortisol, aldosterone and androgen — by the adrenal glands. These disorders are due to a defect in one or more of the enzymes needed to make these hormones. CAH is inherited in an autosomal recessive manner. This means that a child must inherit one defective gene from each parent in order to develop the disease. There are many types of CAH. Signs and symptoms depend on the particular enzyme involved and how severely it is impaired. One type causes a life-threatening cortisol deficiency shortly after birth. Another type causes menstrual irregularities and excess facial hair in adult women. Congenital adrenal hyperplasia may also cause: Ambiguous genitalia High blood pressure in infants and children Early or delayed puberty Excessive male hormones in females Infertility in females A doctor can confirm a diagnosis of CAH by blood tests, which measure levels of cortisol, aldosterone and androgen. CAH is best managed by a specialist familiar with the disease, such as an endocrinologist. Treatment is directed at returning hormone levels to normal with long-term hormone therapy. If you have a family history of CAH, you may benefit from genetic counseling

Question: If a male is born with Congenital Adrenal Hyperplasia, what manifestations of clinical significance might? this patient face during his life (just to be clear, this is in reference only to a male).

Answer: It depends on the deficient enzyme and the clinical form. If a male has a complete deficiency of 21-hydroxylase, he may be phenotypically normal, but will present with a salt losing crisis at 1-3 weeks of age, manifest by weakness, recurrent vomiting, failure to thrive, hypoglycemia, low serum sodium and elevated potassium. He would need mineralocorticoid replacement at least until puberty and glucocorticoid replacement in the short term. Partial 21-OH deficiency may require mineralocorticoids mainly in times of stress. Males appear normal in appearance but exhibit virilization after birth. As to 11 ß hydroxylase deficiency, I am less sure. I guess they would need supplemental aldosterone and treatment for hypertension. The other types are even less common.

Question: where can i find pictures about dyspepsia, Glomerulonephritis, migraine, and congenital adrenal hyperplasia? i need educational pictures of those because this is for my biology project... please help

Answer: Try www.webmd.com

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

Answer: 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.

Question: 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.

Answer: I assume yes you still need it but please check with your doctor.

Question: Is Congenital Adrenal Hyperplasia a genetic condition?

Answer: Congenital disorders may be the result of genetic abnormalities, the intrauterine environment, errors of morphogenesis, or a chromosomal abnormality. The outcome of the disorder will further depend on complex interactions between the pre-natal deficit and the post-natal environment. Congenital disorders vary widely in causation and abnormalities. Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency. Persons affected by any forms of 21-hydroxylase deficiency have two abnormal alleles, and both parents are usually heterozygotes (or carriers). When both parents carry an abnormal allele, each child has a 25% chance of having the disease, a 50% chance of being a carrier like the parents, and a 25% chance of having two normal genes.

Question: Non-Classical Adrenal Hyperplasia ever heard of it? Okay, I was completely astonished by this.. I was watching this show called "Mystery Diagnosis" on Discovery Health. I could not believe what I was hearing - this woman and her family on the show were explaining her ordeal throughout the last 10 years I knew from the first symptom she had expressed what she had. Wow, was I ever wrong. The more and more I watched, the more I was convinced she had Polycystic Ovarian Disease. To make a long story short, this woman had almost every single symptom of Polycystic but it turns out that she had a disease called Non-Classical Adrenal Hyperplasia. Apparently, the symptoms almost mimic one another.. I could not believe it. I just thought I would share this with all of you as I had never heard of it and I don't know if any of you have either, have you? I had been diagnosed with PCOS at 20 and im now 23, and i was never told of this, i was not tested for insulin levels & where the testosterone was coming from (with non-classical adrenal hyperplasia the testosterone comes from the adrenal glands and not the ovaries) I'm now pregnant, so im thinking after the baby is born to get tested for this NCAH, and see what they find, im so glad i found this as i may have been misdiagnosed with PCOS as it said on the show many people get diagnosed with the common PCOS and not this... so its possible some with PCOS have it and have not been notified I recommend if you have been diagnosed with PCOS & never heard of or this NCAH has not been ruled out, to go and get checked and tested for this, tell your doctor about this & ask for tests Heres a site that gave me the overview of the symptoms after looking it up: http://www.wrongdiagnosis.com/c/congenital_adrenal_hyperplasia_non_classical_form/symptoms.htm#symptom_list Its the same symptoms i have for the so called PCOS Also apparently if you have NCAH your more at risk for getting PCOS which causes the ovarian cysts symptoms... Also with NCAH you dont take birth control pills to correct the problem, you are given some steroid (forgot the name) and it makes the testosterone and other symptoms drop and brings your period back... the birth control only gives you a regular non ovulation period... so please get tested if you think you may have this!!

Answer: I have heard of this diagnosis. I learned about the diagnosis thru Mystery Diagnosis as well and it caused me to start wondering as well. I am hoping to get to Endocrinology again to get this checked in to when I talk to them about whether or not I have a thyroid problem.

Question: Adrenal hyperplasia (non-classic/late-onset)? Last year I was diagnosed with polycystic ovarian disease (PCOS). I had blood tests which showed abnormal androgen levels, but ultrasound scans I had show perfectly normal ovaries. Only after 6months has my doctor now questioned the PCOS diagnosis. I went today and had blood taken for DHEA hormone (dehydroepiandrosterone), which I believe is to test for adrenal hyperplasia. I just need some info. on adrenal hyperplasia, and what it means if my test comes back showing I have this. Is it serious? Will i have to be on steriods for the rest of my life? I am female, 21yrs, im still having regular periods, find it difficult to lose weight, have mild hair growth on my face. I know that a diagnosis of PCOS requires BOTH a posative blood test AND a classic enlarged, abnormal ovary, but my ovaries are fine. If anyone knows anything about this please get back to me. Worried.

Answer: The way to diagnose PCOS is as follows: http://www.aafp.org/afp/20030401/practice.html So your doctors did not follow the guidelines. Find other doctors. As for the CAH... hmmm... usually the PCOS is actually mistaken for Cushing's, not CAH. Even if your DHEA is high (and I hope they tested the DHEA sulfate, which is the more accurate test), it can point to Cushing's or CAH. You need a great doc to do more than just one test and need to get it interpreted correctly. I had high DHEA sulfate as well. That you are having regular periods points away from CAH. You don't give a lot as far as symptoms, but I am not confident in your doctors. Get copies of everything and read up on it all.

Question: Adrenal Hyperplasia? What is that? I allways suspected to have high testosterone levels and P.C.O.S, and after a year of trying to conceive me an my fiance have set off to seek help an a diagnosis threw my gynecologist, the first thing he did was a blood test to check for FSH,LH,Testosterone ect.. ect.. after a few weeks the results came back as this Significantly elevated levels of testosterone in my bloodstream a measurement of.88, my docter belives it could be adrenal hyperplasia or poly cystic ovarian syndrome or a combination of both!!!!! I have Many symptoms of P.C.O.S Im 21 overweight have tried to loose weight countless times with out any sucess Trying to conceive for about 18 months also with out any sucess! irregular cycles since the age of 14 excess of facial hair around the areolas face chin and palms and feet enlarged clitoris insulin levels appear to be normal! I am concerned are these treatable conditions? how effective are the treatments (fertility treatments) to for these conditions ? thanks in advance

Answer: Adrenal hyperplasia is a congenital disorder that begins during fetal development. It is a type of adrenal insufficiency in which there are defects in the genes coding for the production of several enzymes. This causes a deficiency in those enzymes which in turn causes insufficient production of two hormones...cortisol and aldoserone. The adrenal glands, sensing an underproduction of these hormones, attempts to improve the output of cortisol and aldoserone, but lacking the correct enzymes, ends up producing too much androgen (a male hormone). Males and females both are affected by this disorder. In males, the genital structures are normal but overproduction of androgen causes premature puberty. In females the clitoris tends to be enlarged, while the enternal reproductive structure is normal. Females tend to develop pubic hair very early, have irregular menstral cycles, and very often have unwanted hair growth (like on the face or chest). 10-15% of women with this disorder have fertility problems. Treatment for adrenal hyperplasia is the use of cortisol-like steroids to return androgen levels to normal. Lifelong treatment is required, with consistent monitoring of hormone levels. There are some complications related to this disorder that can be life threatening, so best to have good medical management.

Question: 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.

Answer: 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. http://www.magicfoundation.org/www/docs/… 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.

Question: congenital adrenal hyperplasia? was wondering if anyone else had it. or if you know any info about it.

Answer: 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.

Question: CAH congenital adrenal hyperplasia? how should you be tested for this?

Answer: 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.

Question: Does anyone know a person with CAH(congenital adrenal hyperplasia)?

Answer: I know some, what do you want to know? try to search for CAH causes, diagnosis and treatment on yahoo, try CAH on webmd.com or mayoclinic.com, you will find a lot, good luck

Question: non-classical congenital adrenal hyperplasia? does anyone has this and what were/are your symptoms? how was it diagnosed? help thanks

Answer: All your questions will be answered here.

Question: Does anyone have Congenital adrenal hyperplasia ? I hardly ever watch anything that is on tlc because of this reason.I think i might have it.Im suppose to have pcos.But my testosterone will not go down and ive been taking metformin.I meet with my new RE in May and im scared to death now.Im currently trying to get a hold of my fertility specialists and ask her if maybe she can prescribe me the medication for it (dexamethasone).To see if my levels go down and if they do then thats what i have.Anyone have this condition

Answer: hey guess wat...i have CAH..i was diagnosed at 12 and had it since..unfortunatley there is no cure but there is treatment..i got the really mild case, the highest my testosterone has eva been is 6 and lowest 2.4..i was on dexamethozone that helped heaps and i was on it with both my pregnancies and both girls were healthy...b4 i was diagnosed doctors thought i had PCOS and lots of girls are diagnosed with PCOS wen in fact they got CAH, its so commonly misdiagnosed..dont b scared cause there is treatment and both times i fell pregnant with no treatment but wen i was pregnant doctors told me to take dexamethozone so the increase in testosterone doesnnt get passed to baby, especually if baby is girl..if u want more info mail me, more than happy to help and give u advice and remember ur not alone :)