McCune-Albright Syndrom? IDK.....

Updated on September 22, 2013
A.C. asks from Aurora, IN
5 answers

I'm gonna try to make this short but know going in, that's not a reality.

In March I took my 5.5 yr old to the doc for smelly pits and mild acne on forehead. Doc said sweat glands could be a bit over-active so she may be smelly. She recommended regular bathing (had been taking daily showers for a while) and to try a different soap for her forehead. Also to pull her bangs up in case the sweat can't get out. The doc really didn't see any acne but humored me anyway with a suggestion. While she did not eat a lot of candy (chocolate specifically) or drink a lot of pop (only every now & then at a restaurant), we cut it back even more.

Kindergarten starts in August and we need a Kindergarten screening! We go to the doc in July. My dd has always been a bit tall & heavy for her age. Always proportionate, but bigger than the other kids. Welp, she was in the 90th percentile for height and weight. No big surprise but a minor sign of early puberty. The doctor then noticed the acne, that had become much more prominent at that point. Another sign. So they are doing a complete physical and see her girly parts are irritated and have some discharge. Another sign. Then they check her breathing & look pull up her shirt to look at her skin. She has a bunch of café au lait spots. Like 11 or something. They're not big but all over her back. So the doc is starting to get more in depth asking me questions about family history on both sides etc to see if any of us anywhere started puberty extra early. Nope. After checking more, there was no pubic hair, underarm hair or breast development so the doc said we're "on watch." If we notice any changes, to call her for an appointment. Otherwise, we'll follow up in 6 months.

Insert changes here: We are almost 6, but still a few weeks out. We have darker, longer hair down there. It started off as one. We thought maybe he was a rogue soldier. Tonight, we noticed the rest of the army coming out. She's been extra sensitive lately. She cries at the drop of a hat. Not so much grumpy or defiant, just..... touchy. She has complained a couple times of a headache across her forehead (child migraine). She threw up the other night in the middle of the night. No warning signs. No upset tummy. Just, puke & sleep. No fever either. All signs of puberty. ...But she's only 5.

So, obviously I'm calling the doctor tomorrow for an appointment. I'm sure we'll end up doing blood work & all that good stuff and likely being referred to a pediatric endocrinologist. At first I was scared and really upset over the possibilities of early puberty. I mean, how do you explain to a sensitive 5 or 6 year old why she has blood coming from her hoo-ha? But we've been doing a lot of online research and I'm OK with whatever we have to face. Be it, seeing puberty through at age 6 or stopping it all together... And we're in constant communication with her teacher as well. Her behavior at school is still good and her grades are even better. Shew!

But..... here's where my question really is: The doctor told me to go home and google café au lait spots. I had never even heard of the term before. I always just thought she had a lot of birth marks. But it being in conjunction with the possibility of early puberty, I googled them separately and then together. Early puberty and café au lait spots often times go hand in hand and are common symptoms or side effects of McCune-Albright Syndrome. The third symptom/side effect is bone abnormalities. Typically in the femur. Then other leg bones. Pelvis. Ribs. Face/skull. She, at this point anyway, doesn't seem to have any abnormalities. Her face is beautifully symmetrical and not disfigured. Her head seems perfectly round to me. She is very tall but one leg isn't longer than the other causing a limp or anything. She's never had a broken or fractured bone. She complains of growing pains in her shins sometimes but I remember doing that as a kid myself. So, the question: If she does have McCune-Albright Syndrome, at what age would the bone abnormalities become noticeable? Would they already be? Are we still at risk for abnormalities to occur?

If you have a related story to help us as a guide, that would be great. Early puberty is nowhere in our families and she is our only child so it's not like we have a reference for any of this. I will say, she never drank much milk (until she started K). Now she does. But we did make sure she got calcium through yogurt, cheese etc. She does not eat any red meat. So I don't know if cow hormones are really much of a factor. I don't know though.

Please, if you have any info to share, do so. I have searched every way I know how to for a timeline for the bone disfigurements and I can't find a thing. Thank you so much!

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More Answers

T.R.

answers from Milwaukee on

Hi A., I'm a bit of a medical sponge, always learning. I hadn't heard of this syndrome before, so I googled around...

The bone abnormalities you mention are called "polyostotic fibrous dysplasia" which is a disease that destroys normal bone & replaces it with fibrous tissue. "poly" means it can/does affect more than one bone, and as you already know, it is very commonly associated with the McCune-Albright syndrome.

The link below is the best site I found for information regarding the onset of symptoms specific to the bones. The source is the Mayo Clinic, which to me has a lot more clout than the blog of one person's anecdotal experience.

It indicates that for persons with "fibrous dysplasia" onset is usually in the teens to 20's, but for more severe cases, & specifically for those people affected with the polyostotic form, onset of symptoms usually occurs by age 10.
http://www.mayoclinic.com/health/fibrous-dysplasia/DS0099...

Additionally, I read in Wikipedia, under McCune-Albright syndrome, that 20-30% of dysplasias within the syndrome are polyostotic, & 2/3 of them develop by age 10.

I also found this site, which goes a bit in-depth regarding the genetic cause & linkage of the syndrome, but also has good reference links towards the end for additional articles & information.
http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome

Keep in mind, also, that this syndrome will have different levels of severity, with some people appearing unaffected or only mildly affected, & others having severe deformities.

I would personally urge you to request a referral to an endocrinologist & a geneticist (perhaps you have a large medical complex nearby that might have doctors in these fields that work together?

I hope this was helpful, & I'll be praying that your next appointment helps bring enlightenment to what is going on. Stay positive, & be strong, as your daughter's advocate. T.

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M.R.

answers from Seattle on

A., please stop obsessively worrying about what you think the medical possibilities are. You are driving yourself crazy.

Call the Doctor ASAP and take her in and let them, allow them, to do their job.

What's concerning are the numerous Cafe Au Lait spots. My hubs is a peds neurologist, and they associate those with a neurological disorder, a genetic mutation, of which I can't recall the name. So it's possible your whole googled bone theory is not accurate.

There are ways to medically postpone or abate puberty. A Peds Endocrinologist will guide you through that process.

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B..

answers from Dallas on

Try an online support group, like mdjunction.com and put in the syndrome.

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P.K.

answers from New York on

I think you need to see a pediatric endocrinologist. They can usually put off puberty. Sounds like you need a team of docs working together.

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A.C.

answers from Dayton on

I don't know anything about McCune-Albright Syndrome, but I want to share my own experience. My eldest daughter was starting to get body odor under her arms at 7 years old. I asked her if her chest felt sore or bruised, which it did. This concerned me, as it could be signs of early puberty. We bought her deodorant and started to look closely at her diet. Dairy foods are usually high in hormones. Many stores have labels, especially on their milk, that say that the cows aren't treated with hormones, but cheeses and dairy products aren't always labeled. Chicken usually has high hormones, as the chickens need to grow fast for demand. We cut back on the amount of chicken our daughter eats and started to buy organic milk. Within a week, she stopped smelling and she stopped complaining about her chest aching. I don't know that this would work in your case, but it something to consider.

As far as the growing pains. I remember growing pains as a child, vividly. My children also have growing pains, even the little one, who is two years old. Magnesium supplements or epsom salt baths can sometimes help prevent or soothe the aches. If your daughter's diet is high in dairy, it can deplete the magnesium in her body, as magnesium is needed to help absorb calcium.

I hope you find some answers.

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