# At my wits end with sons endo- wwyd?



## mommy24 (Jan 31, 2010)

Hi everyone! I'm posting for some insight or guidance. My son just turned 3 and has had pituitary problems since birth (low testosterone). We get his pituitary labs drawn frequently in his first year then annually thereafter. His TSH, T3 and T4 have always been borderline (as in cut-off 14.1 he's right at 14.1). Last week we had another draw (first in a year) and his labs were as follows: 5 or 5.4 on the TSH (I need to double check- it was high) and 12.7 on the T4 & T4F at 1.8. My huge concern with this is that in the past 12 mo he has gained 25 lbs. In the past 3 mo he has gained 7 lbs. We eat a very healthy whole foods diet (aka no processed anything, I home bake bread and 90% of our meals are from scratch). His average caloric intake is 1100-1300 which is on the low side for an active 3 y/o of *normal* weight. He has 1-3 hrs of hard sweaty play per day. I've been keeping a strict record of his diet to show the pedi and endo that there's no way this is a food intake issue. So, he is 3 and 60 lbs. My other children are also bigger than average but not to that extent (ie older brother was 38-43lbs at 3 and same height). 
We went back to the endo because he's been experiencing temp regulation issues- ie super ice box cold at night then night sweats. When he plays he gets beet red and drips sweat and when he gets cold he gets chilled to the bone. He's also had bowel issues basically going back and forth on the extremes on a daily basis.
Our pedi said (prior to testing) that she firmly believes his issues to be metabolic. The endo's answer to me about the tests and my concerns were as follows. Endo said that his problem is 100% caloric intake BECAUSE he is 90th% for height and that his lab tests only mean that he is FAT because kids who are fat have high TSH as a result of being fat. Endo refused to listen to WHAT we feed him at all. When I asked endo why his tests have been borderline since birth no joke I was told "well, he's been a big boy for a long time." (he had labs done at 24hrs after birth that were right at the cutoff for all thyroid functions- endo told me that it's because my born at 8lbs baby was fat!). He was exclusively breastfed until 9mo and then we started solids as well. The boy has never touched a bottle and always been big. Needless to say I'm frustrated, angry, scared and worried for my son. We had an MRI at 5 mo that was inconclusive as to whether he has a small pituitary gland and 3 years and 10 specialist later we have no idea what his true diagnosis is. All we know is he has normal chromosomes. 
So, would you find a new endo? Does this sound as bunk as I feel it sounds? I feel like I've been slapped in the face! I'm a tiny person (all of a sz 0-2) naturally and hubby is a tad on the chubby side but not *huge* by any extent. The endo was trying to tell me it's all genetic and what we're feeding him (even though endo wouldn't listen at all as far as what he's eating) and I feel in my heart endo is so very wrong.

ETA Endo said his HIGH TSH is because his pit gland is overcompensating for his fat (as in he's hyperthyroid?!?) and endo's nurse said the same. His weight pattern: 1 yr: 32 lbs (completely normal for all my kids) 2 yrs: 35 lbs (also completely normal for our kids) 3yrs: 60 lbs. Only "drastic" diet change I can think of is that we changed to iodized salt (go figure).


----------



## thatbrian (Dec 11, 2009)

Hi Mommy24,

After reading your post, it's easy to see that you need a new endo. You obviously take very good care of your children; you are informed about diet, disease, and treatment, but some doctors just don't like intelligent patients (or parents). That my be the problem with this endo.

You said that he doesn't/didn't listen to you. How can he help you child if he doesn't? You are with your son 24/7, so you know everything there is to know about his diet, exercise, symptoms etc. If the Dr refuses to listen to you then he is throwing out a most valuable resource in helping your son. That is just plain stupid, and you don't want a stupid Dr for your son.

There are good doctors out there who listen and who get to the bottom of mysteries; you just have to find them. If it takes 100 tries, find a good endo for your son.

All the best in your search to find an diagnosis for your son.


----------



## Andros (Aug 26, 2009)

mommy24 said:


> Hi everyone! I'm posting for some insight or guidance. My son just turned 3 and has had pituitary problems since birth (low testosterone). We get his pituitary labs drawn frequently in his first year then annually thereafter. His TSH, T3 and T4 have always been borderline (as in cut-off 14.1 he's right at 14.1). Last week we had another draw (first in a year) and his labs were as follows: 5 or 5.4 on the TSH (I need to double check- it was high) and 12.7 on the T4 & T4F at 1.8. My huge concern with this is that in the past 12 mo he has gained 25 lbs. In the past 3 mo he has gained 7 lbs. We eat a very healthy whole foods diet (aka no processed anything, I home bake bread and 90% of our meals are from scratch). His average caloric intake is 1100-1300 which is on the low side for an active 3 y/o of *normal* weight. He has 1-3 hrs of hard sweaty play per day. I've been keeping a strict record of his diet to show the pedi and endo that there's no way this is a food intake issue. So, he is 3 and 60 lbs. My other children are also bigger than average but not to that extent (ie older brother was 38-43lbs at 3 and same height).
> We went back to the endo because he's been experiencing temp regulation issues- ie super ice box cold at night then night sweats. When he plays he gets beet red and drips sweat and when he gets cold he gets chilled to the bone. He's also had bowel issues basically going back and forth on the extremes on a daily basis.
> Our pedi said (prior to testing) that she firmly believes his issues to be metabolic. The endo's answer to me about the tests and my concerns were as follows. Endo said that his problem is 100% caloric intake BECAUSE he is 90th% for height and that his lab tests only mean that he is FAT because kids who are fat have high TSH as a result of being fat. Endo refused to listen to WHAT we feed him at all. When I asked endo why his tests have been borderline since birth no joke I was told "well, he's been a big boy for a long time." (he had labs done at 24hrs after birth that were right at the cutoff for all thyroid functions- endo told me that it's because my born at 8lbs baby was fat!). He was exclusively breastfed until 9mo and then we started solids as well. The boy has never touched a bottle and always been big. Needless to say I'm frustrated, angry, scared and worried for my son. We had an MRI at 5 mo that was inconclusive as to whether he has a small pituitary gland and 3 years and 10 specialist later we have no idea what his true diagnosis is. All we know is he has normal chromosomes.
> So, would you find a new endo? Does this sound as bunk as I feel it sounds? I feel like I've been slapped in the face! I'm a tiny person (all of a sz 0-2) naturally and hubby is a tad on the chubby side but not *huge* by any extent. The endo was trying to tell me it's all genetic and what we're feeding him (even though endo wouldn't listen at all as far as what he's eating) and I feel in my heart endo is so very wrong.
> ...


I have read your post and need to re-read and give some thought. Just wanted to acknowledge you for now.


----------



## Andros (Aug 26, 2009)

thatbrian said:


> Hi Mommy24,
> 
> After reading your post, it's easy to see that you need a new endo. You obviously take very good care of your children; you are informed about diet, disease, and treatment, but some doctors just don't like intelligent patients (or parents). That my be the problem with this endo.
> 
> ...


Wonderful post, Brian..........thank you!! Very supportive and encouraging.


----------



## mommy24 (Jan 31, 2010)

Thank you for being so encouraging. We've seen two of "the best" supposedly "world renowned" endos for him, 2 of their supportive doc staff, and 2 other independent endos (as well as geneticists, pedi-gastero and pedi-neuro because he has had 5 seizures) and I feel like the endos know everything about diabetes and nothing about my sons condition and they care to know nothing because his problems are very rare. Only one of the endos ever treated me as if I have any insight or say in his treatment. 
I am a stay at home mom now but I am well-educated and had a career before children. I try and read-up on everything as much as possible. The answer we've gotten to this point from all endos is "he's on in a million. There's a one in a million chance he has isolated hypogonatropic hypogondaism (low testosterone from the pit gland) and he's just that one." They also bring up Kallmanns but he has a great sense of smell (the key indicator for Kallmanns) and he additionally has seizures (not hereditary in our family) and the weight problem which observing our other children as well I feel they must have relation. I really don't understand why they are testing his thyroid function and then completely discounting the results.
Thank you for listening!!!


----------



## thatbrian (Dec 11, 2009)

I aways search out the best docs for myself as you have for your son; for me at least, that may be part of the problem. The "best" are too important, too busy, and sometimes too full of themselves to be of any use in unusual cases. A doctor that went to a second rate med school, but has good instincts and compassion can be a far better choice at times.

Also, sometimes it's just a matter of one little piece of the puzzle that one doc picks up on that others ignore or don't place a high enough priority on that makes all the difference. That's why the ability to listen is so important in a truly good Dr.

Lastly, some docs focus on particular things and pigeon hole everyone, so, again, they are worthless for rare cases.



mommy24 said:


> Thank you for being so encouraging. We've seen two of "the best" supposedly "world renowned" endos for him, 2 of their supportive doc staff, and 2 other independent endos (as well as geneticists, pedi-gastero and pedi-neuro because he has had 5 seizures) and I feel like the endos know everything about diabetes and nothing about my sons condition and they care to know nothing because his problems are very rare. Only one of the endos ever treated me as if I have any insight or say in his treatment.
> I am a stay at home mom now but I am well-educated and had a career before children. I try and read-up on everything as much as possible. The answer we've gotten to this point from all endos is "he's on in a million. There's a one in a million chance he has isolated hypogonatropic hypogondaism (low testosterone from the pit gland) and he's just that one." They also bring up Kallmanns but he has a great sense of smell (the key indicator for Kallmanns) and he additionally has seizures (not hereditary in our family) and the weight problem which observing our other children as well I feel they must have relation. I really don't understand why they are testing his thyroid function and then completely discounting the results.
> Thank you for listening!!!


----------



## Andros (Aug 26, 2009)

mommy24 said:


> Hi everyone! I'm posting for some insight or guidance. My son just turned 3 and has had pituitary problems since birth (low testosterone). We get his pituitary labs drawn frequently in his first year then annually thereafter. His TSH, T3 and T4 have always been borderline (as in cut-off 14.1 he's right at 14.1). Last week we had another draw (first in a year) and his labs were as follows: 5 or 5.4 on the TSH (I need to double check- it was high) and 12.7 on the T4 & T4F at 1.8. My huge concern with this is that in the past 12 mo he has gained 25 lbs. In the past 3 mo he has gained 7 lbs. We eat a very healthy whole foods diet (aka no processed anything, I home bake bread and 90% of our meals are from scratch). His average caloric intake is 1100-1300 which is on the low side for an active 3 y/o of *normal* weight. He has 1-3 hrs of hard sweaty play per day. I've been keeping a strict record of his diet to show the pedi and endo that there's no way this is a food intake issue. So, he is 3 and 60 lbs. My other children are also bigger than average but not to that extent (ie older brother was 38-43lbs at 3 and same height).
> We went back to the endo because he's been experiencing temp regulation issues- ie super ice box cold at night then night sweats. When he plays he gets beet red and drips sweat and when he gets cold he gets chilled to the bone. He's also had bowel issues basically going back and forth on the extremes on a daily basis.
> Our pedi said (prior to testing) that she firmly believes his issues to be metabolic. The endo's answer to me about the tests and my concerns were as follows. Endo said that his problem is 100% caloric intake BECAUSE he is 90th% for height and that his lab tests only mean that he is FAT because kids who are fat have high TSH as a result of being fat. Endo refused to listen to WHAT we feed him at all. When I asked endo why his tests have been borderline since birth no joke I was told "well, he's been a big boy for a long time." (he had labs done at 24hrs after birth that were right at the cutoff for all thyroid functions- endo told me that it's because my born at 8lbs baby was fat!). He was exclusively breastfed until 9mo and then we started solids as well. The boy has never touched a bottle and always been big. Needless to say I'm frustrated, angry, scared and worried for my son. We had an MRI at 5 mo that was inconclusive as to whether he has a small pituitary gland and 3 years and 10 specialist later we have no idea what his true diagnosis is. All we know is he has normal chromosomes.
> So, would you find a new endo? Does this sound as bunk as I feel it sounds? I feel like I've been slapped in the face! I'm a tiny person (all of a sz 0-2) naturally and hubby is a tad on the chubby side but not *huge* by any extent. The endo was trying to tell me it's all genetic and what we're feeding him (even though endo wouldn't listen at all as far as what he's eating) and I feel in my heart endo is so very wrong.
> ...


While rare in children, I presume your child has been checked for Cushing's Disease? Addison's as well?

If when you have the time, you could furnish the lab results for thyroid with the ranges intact? Different labs use different ranges.

Also, has your son had any antibodies' tests at all such as ANA (antinuclear antibodies) or any indigenous to the thyroid?

Geez; it is always so sad to see a little one unwell and not enjoying their toddler stage. And I do think your endo's statement is out in left field.

And now I am going to tell you what my gut instinct is. I think that your son should get an antibodies' test for TSI (thyroid stimulating immunoglobulin) which if present in any amount would indicate hyperthyroid. Not all individuals lose weight w/hyper; many gain weight and the "clue" for me in reading and re-reading your post is what you said about the hypo/hyperthermia.

The "usual" thyroid panel does not always reflect this; especially if the numbers are always coming back within the normal ranges. Just for the sheer heck of it, see if you can get that test for your son. TBII (thyroid binding inhibitory immunoglobulins) would be a good one also as they are the antibodies against the autoantibodies. It gets complicated but I am sure you get my drift. And you may think I am way out in left-field but that is okay too!!


----------



## chopper (Mar 4, 2007)

Hello,

I can only offer input from my own perspective. I too have a 3 year old - 3.5 years old to be exact. He weighs 33 pounds and is very healthy (thankfully). He looks like an "average" 3 year old and I think he was in the 80% when he last got checked and the doctor told us to limit sweets and desserts and stuff because he was starting to get a little chunky.

1100 calories for a 3 year old sounds like a large number of calories based on my very "average" son, but Im not an expert. If I had to guess, my son could not eat a calorie more than 800 or 900 per day but I am just taking an educated guess. We never wrote it down. His portions are very small and he is often more interested in playing rather than eating his meals. We usually have to coach him or bribe him to get him to finish eating.

For instance, he will often eat 1/4 - 1/2 of a peanut butter and jelly sandwich for lunch and 3/4 cup of whole milk. Once in a blue moon he will finish the entire sandwich but its pretty rare. Breakfast will be a half slice of toast and some fruit, like a half banana or half apple and some raisins. On other days, he will eat what probably equates to 5 or 6 tablespoons of cooked oatmeal before saying he's done. Dinner might include a few tablespoons of cooked veggies, 2 thin baked and breaded chicken strips and a half cup of mashed potato, along with a cup of milk. He'll also usually get a few small snacks during the day - a pretzel stick, a small box of raisins, some apple slices, another half banana, some "goldfish" or teddy graham crackers. He eats a lot of small meals all throughout the day. He too is very active, always wrestling with his older brother or jumping around.

All in all I can't imagine it totals much over 900 calories in all. We do have a lot of trouble getting him to eat at times - he's getting in his "picky stage" where things he used to eat he no longer eats and most of the time he seems preoccupied with playing rather than eating so most of his daily calories actually come from small frequent snacks during the day rather than the 3 main meals which he tends to walk away from.

Children at that age change quickly. My son got a little chubby just about 7 months ago and has since shot up and become a lot more active causing him to look a lot thinner quickly. My other son also went through a chunky phase for a while but also lost it as he grew taller and now is very thin.

Do you allow access to snacking whenever they want? We always control the snacking. We never NOT allow a snack, but will make the choices in what they eat and how much usually. If its close to dinner time, we'll give him a snack but it's usually small and nutritious, like a half banana or something similar - something to keep him going until dinner - maybe a small baggie of cheerios or the like but we don't give them free access to the fridge whenever they want.

BTW...My son was also 8 pounds 9 ounces at birth - he was HUGE. He was also breastfed for the first full year of his life....

Hope this helps.


----------



## chopper (Mar 4, 2007)

Please check your private messages...I am sending something that might help...


----------



## Andros (Aug 26, 2009)

mommy24 said:


> Thank you for being so encouraging. We've seen two of "the best" supposedly "world renowned" endos for him, 2 of their supportive doc staff, and 2 other independent endos (as well as geneticists, pedi-gastero and pedi-neuro because he has had 5 seizures) and I feel like the endos know everything about diabetes and nothing about my sons condition and they care to know nothing because his problems are very rare. Only one of the endos ever treated me as if I have any insight or say in his treatment.
> I am a stay at home mom now but I am well-educated and had a career before children. I try and read-up on everything as much as possible. The answer we've gotten to this point from all endos is "he's on in a million. There's a one in a million chance he has isolated hypogonatropic hypogondaism (low testosterone from the pit gland) and he's just that one." They also bring up Kallmanns but he has a great sense of smell (the key indicator for Kallmanns) and he additionally has seizures (not hereditary in our family) and the weight problem which observing our other children as well I feel they must have relation. I really don't understand why they are testing his thyroid function and then completely discounting the results.
> Thank you for listening!!!


Oh, by the way, myoclonic seizures are not uncommon in hyperthyroid. (you will read my other post to you.)


----------



## mommy24 (Jan 31, 2010)

Andros said:


> While rare in children, I presume your child has been checked for Cushing's Disease? Addison's as well?
> 
> If when you have the time, you could furnish the lab results for thyroid with the ranges intact? Different labs use different ranges.
> 
> Also, has your son had any antibodies' tests at all such as ANA (antinuclear antibodies) or any indigenous to the thyroid?


On Cushings they check his cortisol every time they check everything else and it's always been completely normal. There was HUGE concern over that and for a while we had to have him take Cortef because the docs thought even though it was in normal range it was not normal or worth the risk. Long story short he has an oral intollerance of it and the meds made him quit breathing (ambulance ride, hospital stay and injections of Cortef). Subsequently they decided not to keep him on it because he couldn't take it orally- he got a virus and recovered on his own so it was then assumed that he didn't need it at all.
As far as Addisons and the rest of the more in depth testing nothing has been done. I will bring it up though tysm for the recommendations!
Range I will check Monday. I know they were all high and cut-off for TSH is 4.7. Cutoff for T4 was below 12. I'm going to ask for a copy of the report tomorrow.

On his eating I thought he only ate 800 calories too until I started the whole bite write it (and I may be vastly over estimating too). He eats very similar as to how you're describing your son (except that we switched to skim milk). Only organized snacks (there's no free access to any junk as we don't even keep it in the house). Here's yesterdays intake for example:
Breakfast try 1: 1% milk 1/4c (I fixed oatmeal he didn't eat)
Breakfast try 2: 1/4 Low sodium deli sliced chicken breast (1-2 oz of chicken) 1/2 tsp mustard 1% milk 1/4c
Snack: 6 oz homemade smoothies 1/4c whole milk yogurt, strawberries, raspberries, blueberries
Lunch: 1/4-1/2 grilled cheese sandwich 1/2c tomato soup made with water (he left out a lot of pieces)
Snack: Crasins 1/8c, 1/2 med banana
Dinner: Boiled potatoes (1 small red) w/1 tsp butter, lean porkchops 3 bites (maybe 2-3oz), fresh strawberries, 1/2 biscuit (homemade), 1 baby corn (canned in water and salt)
Drinks: water, bubble mineral water and the above milks

I usually count the full item even though he doesn't eat it all (ie 1/4 of a sandwich in reality is probably less even because he drops stuff, won't eat crust, etc). Same with bananas. So my estimate on calories may be over but I figure better that tan under all things considered!
That's a pretty typical day although that's a lot for dinner for him (he played outside all day on the swingset and running around and went to the mall with daddy).

The seizures he had were diagnosed by the pedineuro as "childhood myoclonic seizures" and we were told they were either due to hypoglycemia or because the seizure tolerance in children is generally low and that he would "outgrow them". 4 of the 5 seizures happened after fasting for blood tests and then eating and then he seized. They were very short- 20 second range. The last one was 6 months ago in the middle of the night and he'd not eaten much all day and he seized for over a minute. Here's another problem with the endos (ALL of the ones we've seen except the one I said listened to me)- they say "possible seizure activity" whereas I understand his EEG was normal but I also KNOW he had seizures because I was holding him 4 times and DH was holding him for the minute long seizure (he had a coughing fit which prompted us to check on him and he was fully seizing at the point we walked in). The pedi-neuro had no doubt either that he has had seizures. I didn't realize it could be related to thyroid problems........ think that would have anything to do with why they happen after fasting then eating (the thing is if they were hypoglycemic seizures apparently they'd only happen while he's fasting- not after the eating).


----------



## mommy24 (Jan 31, 2010)

thatbrian said:


> I aways search out the best docs for myself as you have for your son; for me at least, that may be part of the problem. The "best" are too important, too busy, and sometimes too full of themselves to be of any use in unusual cases. A doctor that went to a second rate med school, but has good instincts and compassion can be a far better choice at times.
> 
> Also, sometimes it's just a matter of one little piece of the puzzle that one doc picks up on that others ignore or don't place a high enough priority on that makes all the difference. That's why the ability to listen is so important in a truly good Dr.
> 
> Lastly, some docs focus on particular things and pigeon hole everyone, so, again, they are worthless for rare cases.


Great points. We're in a major metro area & we've been doing children's hospital- maybe I shld see a young & fresh doc? I'm not sure how I feel about going to the other "amazing pedi-endo" in the area for a 2nd opinion.


----------



## Andros (Aug 26, 2009)

mommy24 said:


> On Cushings they check his cortisol every time they check everything else and it's always been completely normal. There was HUGE concern over that and for a while we had to have him take Cortef because the docs thought even though it was in normal range it was not normal or worth the risk. Long story short he has an oral intollerance of it and the meds made him quit breathing (ambulance ride, hospital stay and injections of Cortef). Subsequently they decided not to keep him on it because he couldn't take it orally- he got a virus and recovered on his own so it was then assumed that he didn't need it at all.
> As far as Addisons and the rest of the more in depth testing nothing has been done. I will bring it up though tysm for the recommendations!
> Range I will check Monday. I know they were all high and cut-off for TSH is 4.7. Cutoff for T4 was below 12. I'm going to ask for a copy of the report tomorrow.
> 
> ...


Well; ask yourself, "How did this lady know they were myoclonic?" There are all kinds of seizures.

Okay....................Hashimoto's Encephalopathy. (known to be a roller coaster ride, hypo and hyper, flitting back and forth.) Myoclonic seizures. Episodes of hypoglycemia etc..

These Tests will confirm a diagnosis of Hypothyroidism. Or the patient may be Euythyroid - no Thyroid problem indicated - BUT - the patient still can have H.E. AND Elevated Thyroid Autoimmune Antibodies from results of the Tests listed below. 
[[[Note that the patient can appear euthyroid as per labs and such]]]

http://www.orgsites.com/fl/hashimotos-encephalopathy-casestudies/


----------



## chopper (Mar 4, 2007)

I agree something is going on with his metabolism but if he was hypo enough to gain weight that quickly, wouldn't that show up in his behavior? The child is very active. I don't think that would be the case if he was very hypo and with HE, there would be significant mental symptoms as well, along the lines of schitzophrenia, wouldn't there be? Additionally, HE is known to be extremely rare isn't it? The child's daily behavior appears normal, correct?

I think he needs to start with a rock-solid, 3T (3-Tesla) CONTRAST MRI to see what's going on in and around the pituitary/hypothalamus.


----------



## Andros (Aug 26, 2009)

nasdaqphil said:


> I agree something is going on with his metabolism but if he was hypo enough to gain weight that quickly, wouldn't that show up in his behavior? The child is very active. I don't think that would be the case if he was very hypo and with HE, there would be significant mental symptoms as well, along the lines of schitzophrenia, wouldn't there be? Additionally, HE is known to be extremely rare isn't it? The child's daily behavior appears normal, correct?
> 
> I think he needs to start with a rock-solid, 3T (3-Tesla) CONTRAST MRI to see what's going on in and around the pituitary/hypothalamus.


That too; I think that sort of test would be extremely important. Good show on that one.


----------



## mommy24 (Jan 31, 2010)

Seizures myoclonic based on presentation I guess (convulsing and short also cyclical as he had bouts 2 close in days, 2 close in days, then 1). We only had a basic contrast MRI which proved completely pointless. It noted a "white spot on a small present pituitary gland possibly within normal limits for age". Translation: there may be something on it, it may be small, all we know is he has a pituitary gland. Glad we went through the trouble of a sedated contrast for the . I do agree that I think that's the first thing we need to go back to is likely another MRI. Even with his low testosterone I've read that MRI is a good place to start to diagnosis the cause of that as well (but that they should look for things they weren't looking for the first time). 
Tomorrow's priority is getting a copy of the lab tests, talking to the pedi about her insight and looking into a new endo. I think I shall write a letter to the endo I liked as well and ask if he's willing to assess these new s/x and results.
Thank you all so much. I am truly thankful to talk to people who don't treat me like I'm an idiot because I don't have MD after my name!


----------



## chopper (Mar 4, 2007)

I know this is probably too obvious but both testicles are where they are supposed to be, right? Has anyone physically checked to be sure both testes are in the scrotum?

In little kids if one testicle doesn't drop all the way it can go unnoticed since their scrotums are so small and unless someone physically "rolls them around" to make sure there are 2 in there a hidden testicle may go unnoticed.

Have you given him an FSH and LH test as well as IGF-1? Im not sure if those tests are available for kids but in adults you want to rule out where the low testosterone is coming from - the testicles, the pituitary or other. His pit could be perfectly fine and have really low testosterone due to a malfunctioning testicle or miscommunication between the brain and testes.

Was there ever any damage to the testes - a good kick in the groin, a bad fall or anything like that? Have the doctors run any testicle-specific tests to see if his testes would work normally if he had a properly functioning pituitary?


----------



## mommy24 (Jan 31, 2010)

Yes, they're descended & have rouge which is what makes his condition of HH (low testosterone from the pit gland) extremely rare & unique as he was born with slight undersizing but had testosterone shots to correct it and will have to get them periodically throughout childhood and likely to go through puberty as well. He's responsive to testosterone too which is another good trait but only 50% or less of people with HH at birth respond to the treatment. (I know WAY more about the whole thing now than I ever imagined I would!)
We routinely get FSH, LH, growth hormones, cortisol, prolactin, IGF-3 (which has always been high but there's only a worry if it is low I guess). He was born with testosterone at 227 after birth (normal 60-400) which quickly dropped to 14 and has stayed there ever since. Another complete anomaly which gains marks of "contradictory" and "perplexing" from the docs. I've wondered the same thing about his testes but I guess it's not possible since the onset was at birth. The way it was explained to us something "went wrong" around the 12th to 14th week of pregnancy causing his pit gland not to send clear signals to his body to reliably produce testosterone (and possibly other pit hormones). See why no doctor takes interest? Why bother with the one in a million case (literally we were told by 4 doctors that he is one in a million)? I guess I can't blame them for knowing little of it, but on the other hand it seems like there's a whole lot of puzzle pieces and no one even attempts to link any of it. Initially they thought at birth that he had Prader-Willi, but he's neuro-typical (smart even ), looks normal, and has normal chromosomes.


----------



## chopper (Mar 4, 2007)

Man I'll tell you, I am stumped. I wish I could offer more help but this condition appears to be more complicated than any of us here can really help with. The fact that he is so young makes it even harder. We don't want to give you bad information or send you in circles. I think you really need to get him to a good diagnostician. The Mayo Clinic is supposed to be excellent too.


----------

