Precocious Puberty or Non-classical Congenital Adrenal Hyperplasia

Updated on July 24, 2010
D.T. asks from Durham, NC
5 answers

Hi,
I've seen several posts about precocious/premature puberty; unfortunately, I don't seem to be able to sort results so that I can look at the most recent posts.

My 6 yo daughter started with strong (adult) underarm odor when she was around 3; at the time, I was told not to worry about it. Since then, we've had her on organic milk and we really only eat buffalo (instead of cow). About 6 months ago, I noticed her forehead breaking out like a teenager's, and I couldn't figure out if we were doing something different, or what the deal was. I didn't put the break-out with the odor until last week I found at least one pubic hair (definitely pubic--long, coarse). At that point, though, all three symptoms came together, and I started to worry.

I did some on-line research, and found a website off of one of NIH's (NICHD) websites that addresses Congenital Adrenal Hyperplasia. My daughter definitely doesn't have the "classical" CAH, but there is another form, called non-classical CAH.

I took my daughter to see a NP @ her pediatric practice, as her primary care physician (PCP) is male, and I knew that this exam would be hard enough, that it would be better with a female. Unfortunately, for whatever reason (caught her on a bad day, she didn't want to admit she didn't know, she didn't want to look bad in front of her "trainee"), she pretty much cut me off when I brought up CAH, so I didn't even have a chance to get to NCAH. She did order a bone growth scan, which we went ahead and had done (I've since learned that the scan isn't a good diagnostic test, as there is a blood test that is pretty accurate). Since then, I contacted her PCP and told him how unhappy I was with the visit. He's been really great for my daughter, and openly admitted he needed to do some research on NCAH. We spoke again the following day, after he'd done his research, and he said he'd look @ the results of the bone growth scan and then we'd talk again, as other tests might need to be done at the same time as the one I referenced above.

Has anyone had experience with NCAH? Any advice? It's a bit overwhelming because she also has ADHD and Sensory Processing Disorder. She really doesn't need these complications, too...

Thanks in advance for any input.

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I.G.

answers from Seattle on

NCAH should be diagnosed by a specialist, not her PCP. Actually instead of "getting back to you after some reserach" your PCP should have referred you to a pediatric endocrinologist for a dignostic workup.
That is the route I would go, ask for a referral and get a correct diagnosis.

Endocrine factors (hormones) can have a major effect on brain development/behavioral issues. It is not entirely impossible that her other syndromes might get better once your daughter's endocrine condition is properly diagnosed and treated.
Good luck!

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D.H.

answers from Indianapolis on

Unfortunately, I have no idea what you are talking about, but I can tell you this...........You are doing a great job of taking your daughters health care into YOUR hands.........every parent needs to do this.........you know your child the best and it's up to you to make sure that the medical field does what his right......even if you have to ORDER them to do it for the sake of your mind and your child's health.

If you don't get the results you want or need to put you and your daughter at ease, then get a second opinion..........although it does sound like your Dr. is willing to do what it takes in this case.

Good Luck and I hope everything turns out well for you and your're daughter.

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J.W.

answers from Lexington on

Sorry, I did not see this until now. My daughter turned out to be VERY SENSITIVE to the chemicals in plastics (pthalates and BPA). It also took years before we found she had some other subtle endocrine problems. Quick thinking early on by the pediatrician, however actualley reversed some of the VERY EARLY pubertal changes when she told us to get rid of using any plastics in relation to foods. This was over 15 years ago!

So, the lesson I learned is that it is best to live as healthy a life as possible, and ALSO to get adequate testing (word of caution, insurance would not even pay for some of the testing the endocrinologist wanted to run and which we paid for ourselves).

And, sadly, some of the repercussions of these problems can get (mis)diagnosed as "mental illness" down the road.

I am very glad for your daughter that you are so on top of things this early on.

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A.M.

answers from New York on

no experience, but relative had symptoms of precocious puberty.

if i were you, i would not be talking to the PCP about this. this is definately something a specialist will be more knowledgable. i would assume the growth scan is a good start but i would def want to see the blood tests as well.

dont waste time though, specialists usually have a bit of a wait(they waited a few months for an appt and we live in a very populated area where medical services are highly saturated). you want someone who already knows what they are looking for, as well as someone who is knowledgable of other issues without researching. lets say the tests come back looking like its not that, well then this doctor wont have a "runner up" to go and look at. a specialist will be familiar with other things possibly related that you or your PCP may never have considered.

aside from all this, concentrate first on precocious puberty. look at the more common first, and rule out as you go on. dont get yourself thinking something more troublesome right away when there is the possibility of other lesser possibilities. you know something is wrong, but just take it slow or you will be overwhelmed.

i wish you all the luck in finding an answer quickly. remember, you are your daughters advocate, so keep pushing until you feel you are getting the help you need. im sorry you have to be dealing with these concerns, its so hard with kids.

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R.B.

answers from Nashville on

First, I want to say thank you on behalf of your daughter. She may not realize it now, but later in life she will be very grateful for your observations.
Second, get her to a pediatric endocrinologist as soon as possible. If the first one will not do anything, see another one. Keep going until you get answers.
I have 3-beta CAH. My symptoms started around age 7 with precocious puberty. By 19 I was overweight, had irregular menses, rages, and a beard. I was not diagnosed until 21 and not treated until 24. This allowed the disease to damage other parts of my body. My fertility is impaired and I have a more masculine body. Think female bigfoot. Mentally, I suffer from depression and rages. All of this could have been avoided if I had been diagnosed and treated as a child. I was lucky enough to have one daughter at age 35, after years of fertility treatments. So far she tests negative for CAH, but I see indications that she has it anyway. We are currently on a waiting list to see a pediatric endocrinologist.
Anyway, even if it is not a form of CAH, it could be something else. An endocrinologist can run the blood tests to diagnose. The earlier she gets treatment the less problems she will have in the future. Treatment is usually a corticosteriod taken daily. Look up the CARES foundation online for more information and doctor recommendations.

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