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Old 05-27-2007, 09:13 PM   #1 (permalink)
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Default Have you heard about this?

I was watching Mystery Diagnosis and there was this woman who was diagnosed with PCOS. She had all the classic symptoms, hair growth on her face, lack of menstration, infertility, insulin resistance, and weight gain. Her blood test results also proved PCOS. But then after treatment and nothing was working they diagnosed her not with PCOS but with Congenital Adrenal Hyperplasia. I copied the symptoms because I thought it was interesting. The doctor started her on a new medication and her testosterone levels lowered and her menstral cycle returned. Anyway, here it is:

The most common type of CAH results from low production of an enzyme of the adrenal gland called 21-hydroxylase. Mild forms of the disease (called "non-classical") result in symptoms such as severe acne, excess facial and/or body hair, early development of pubic hair, receding scalp hairline, menstrual disturbances in females, and infertility in both males and females. More severe forms of the disorder (called "classical" CAH) can result in ambiguous genitalia in a newborn girl, as well as severe salt and hormonal imbalances in both girls and boys.

She even had the darkening of the skin also. She was a classical PCO. It makes me wonder if anyone could be misdiagnosed. But what if the treament that worked fo CAH could work for PCO? I can't remember what the treatment was, it was a low dose of a steriod drug that started with Dex...? Anyway I was thinking about this and thought I would throw it out to all of you and see what you all thought.
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Old 05-27-2007, 10:37 PM   #2 (permalink)
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I just posted about this also! My mom watched something (maybe the same show) and mentioned it to me.
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Old 05-27-2007, 10:48 PM   #3 (permalink)
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Weird huh? To funny we would both post this. I just new it was PCO in the beginning of the show and then it wasn't. Maybe she still does but has both or the treatment for CAH works with PCO as well? I just wonder if its possible. New things are always coming up that they didn't know before. I think its a question worth asking your doctor. Just my thoughts anyway. I am going to ask my doctor for sure.
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Old 05-27-2007, 11:13 PM   #4 (permalink)
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I am glad someone else saw this show. I did as well. After watching this show it almost brought on a new hope for me. I have really been struggling with excepting my pcos diagnosis, none of my sisters have it nor did my mother, I was told that I am insulin resistant and I just recently started monitoring my blood sugar. Well I did a little research and here is a link that can help you better understand Nonclassical Congenital Adrenal Hyperplasia or NCAH. http://www.caresfoundation.org/symptoms.html

Needless to say, I was informed that a doctor should test you for this before confirming a diagnosis of PCOS, my gyno just ran some basic tests and gave me a pcos diagnosis, my endo went off the lab results he faxed to her. So June 18, I have an appointment to go see my endo, which I will definitely ask to get tested to see if I have NCAH.

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Old 05-27-2007, 11:23 PM   #5 (permalink)
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Great website and very imformative. I think its worth asking that is for sure. Thanks for the post!
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Old 05-28-2007, 12:42 AM   #6 (permalink)
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I am definitly going to be talking with my doctor about this. It is worth looking into! Thanks for the link!
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Old 05-28-2007, 01:11 AM   #7 (permalink)
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Very interesting...

I've been wondering about how similar Cushings is to PCOS also and being misdiagnosed or even having both.
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Old 05-28-2007, 02:03 AM   #8 (permalink)
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Cushing's deals with an excess of cortisol and patients typically have a round, moon-like face, a central obesity with purple striae (stretch marks) on the abdomen and or breast, and thin arms and legs. Furthermore, patients with Cushing's often demonstrate weakened upper arm and leg muscles and have a buffalo hump. People with Cushing's don't, however, have an increased LH/FSH ratio.

Symptoms of both Cushing's and PCOS include central obesity, acne, increased facial hair, acanthosis, alopecia, mood swings, and depression.

Cushing's is often a "subway diagnosis" meaning that if you saw a person with Cushing's on the subway, you would know what they had it based on the central obesity, thin limbs, buffalo hump, and facies.

CAH is a genetic disorder that is characterized by enzyme deficiencies as mentioned by cosmogal. Commonly, infants born with this have virilization (males may be mistaken for females and females may be mistaken for males due to physical external genital abnormalities that have resulted from the enzyme deficiencies). There are currently 13 countries and 45 of the 50 U.S. states that tests newborns for this disorder at birth. I'm not sure when the U.S. instituted this screening policy, but now it is generally caught at birth or puberty (if it wasn't tested for at birth, obviously).

I'm glad I found this post. I was studying for my Pathophysiology test tomorrow, and Endocrinology is on the exam. It was a nice little review for me to write what I know! Hope this information helps!
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Old 05-28-2007, 03:27 PM   #9 (permalink)
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Very good information! That you for posting.
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Old 05-28-2007, 06:52 PM   #10 (permalink)
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Quote:
Originally Posted by Future Doc Cyster View Post
CAH is a genetic disorder that is characterized by enzyme deficiencies as mentioned by cosmogal. Commonly, infants born with this have virilization (males may be mistaken for females and females may be mistaken for males due to physical external genital abnormalities that have resulted from the enzyme deficiencies).
all very true! but sometimes one may have an "unpure" desease due to the fact that there are a lot of enzimes working to syntetize all those hormons and lot of pathways are redundant..
my endo gyno asked me a lot of exams and in them she added also some to exclude that.. i'm retiring the results on june8th!
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Old 05-28-2007, 07:01 PM   #11 (permalink)
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Definately click on the link that Stephanie posted because it tells you the difference between non-classical CAH and congenital adrenal hyperplasia. One you are born with and the other you develop later in life.
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Old 05-29-2007, 05:25 PM   #12 (permalink)
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very very very interesting site
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Old 05-29-2007, 06:02 PM   #13 (permalink)
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I think there a few women around this board who have said they have non-classical CAH.
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Old 05-30-2007, 04:46 AM   #14 (permalink)
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it sounds like me. i may mention this to my dr when i go back to the RE this summer. I started developing around 8 or 9 and began AF at 10. I was at my full height (5'6") at age 11. I haven't grown since the 5th grade!

We always assumed, because my father matured at a young age and grew quickly, that was the reason. now i kind of wonder. that website was incredibly informative, and i wish i had seen the program!!!
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Old 05-30-2007, 09:00 PM   #15 (permalink)
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I emailed my Endo today and he emailed me back saying this "Congenital adrenal hyperplasia is a childhood disorder but can occur as a late onset form , and may present looking like PCOS. So I always test for it. You do not have it. Your 17-hydroxyprogesterone level was 23. It would have to be elevated to 1000-1500 for us to consider this." I love my Endo. he tested me for everything. I figured he did because I had 11 vials of blood taken when I had my tests done.
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