questions about klinefelters

[ASP23]

hello all,
im actually thinking about going to an endocrinologist, but wanted to pass some things by this post first. let me start out by saying that i was sorta shocked when i read the description of klinefelters syndrome, because a lot of what is described here and other sites describes a lot of aspects of my life that ive tried to fix in separate instances. the only thing im confused about that some (very few actually) of the symptoms do not line up to my case, but it has also said that some things do not necessarily have to be present to show this ''syndrome''. i dont know if this has anything to do with it, but i was also born with pyloric stenosis, which is a blockage of the stomach due to the thickening of the pyloric muscle, which some say can be due to a hormone imbalance, as well as asthma, which i believe (not too sure) is also sometimes due to a hormonal imbalance. i have also went as far to check out my parents backgrounds,and my mother has had a few problems, all of which have the underlying cause of hormonal imbalance. i was wondering how to approach figuring out all of this, i know to go to endocrinologist, but i am still very unsure as to what to tell them and ask them. what test will they need to run? and how do i know that ill cover all bases. i just know in the past i havent always been too good at making sure i try all options, and i know that if i dont no one else will, just i really dont know too much about a lot of this, because its all very new information to me as im trying to get things going on gynecomastia surgery, and it seems things are pretty hard to figure out when its trying to find some things that arent that common with a lot of doctors fields of practice. any advice would be greatly appreciated thanks

ASP23

[DrBermant]

hello all,
im actually thinking about going to an endocrinologist, but wanted to pass some things by this post first. let me start out by saying that i was sorta shocked when i read the description of klinefelters syndrome, because a lot of what is described here and other sites describes a lot of aspects of my life that ive tried to fix in separate instances. the only thing im confused about that some (very few actually) of the symptoms do not line up to my case, but it has also said that some things do not necessarily have to be present to show this ''syndrome''. i dont know if this has anything to do with it, but i was also born with pyloric stenosis, which is a blockage of the stomach due to the thickening of the pyloric muscle, which some say can be due to a hormone imbalance, as well as asthma, which i believe (not too sure) is also sometimes due to a hormonal imbalance. i have also went as far to check out my parents backgrounds,and my mother has had a few problems, all of which have the underlying cause of hormonal imbalance. i was wondering how to approach figuring out all of this, i know to go to endocrinologist, but i am still very unsure as to what to tell them and ask them. what test will they need to run? and how do i know that ill cover all bases. i just know in the past i havent always been too good at making sure i try all options, and i know that if i dont no one else will, just i really dont know too much about a lot of this, because its all very new information to me as im trying to get things going on gynecomastia surgery, and it seems things are pretty hard to figure out when its trying to find some things that arent that common with a lot of doctors fields of practice. any advice would be greatly appreciated thanks

ASP23

I have lectured for many Klinefelter's Syndrome groups and am on the Professional Advisory Board of  The American Association for Klinefelter Syndrome Information and Support (AAKSIS).

I send all patients who seem to have undiagnosed Klinefelter's Syndrome to an endocrinologist for an evaluation.  You can find extensive resources for Klinefleter's Syndrome here.  You can find forums of patients who have delt specifically with this problem.

When asking an endocrinologist's office about a consultation, you can ask if they feel comfortable evaluating Klinefelter's Syndrome.  If they do not know what you are talking about, you may want to consider looking elsewhere.  

Hope this helps,

Michael Bermant, MD
Learn More About Gynecomastia and Chest Sculpture

[hypo]

ASP23

Klinefelters Syndrome can be diagnosed via a genetic karyotype test as can the Kallmans Syndrome and other genetic mutations of the chromosomes.

It is quite possible not to have Klinefelters Syndrome or a genetic chromosome abnormality but have another form of testosterone deficiency.

Of course investigations should be undertaken by an endocrinologist who has an interest in this area of medicine.

If you tell me what city and state you live in I can get you the details of such endocrinologists in your area whom you may call.

It may be that you have no issue at all and are unduly concerned.  Either way a good endocrinologist will see you right whether that is diagnosis and treatment or putting your mind at ease.

[Gine2D]

They will feel & measure your testicles, penis, arm span, height., male & female hormones, thyroid, & a genetic karyotype blood test for chomosomes.

If you have the Mosaic version it is very hard & expensive to detect.  You can have 46/47 xy/xxy chromosomes scattered around the body.  

My xxy chromosomes are in the upper body & have almost no upper body hair. Some have boobs & some do not.  I have them.  

The Mosaic version have a few live sperm & can produce a child after usually hundreds of attempts.

Full Klinefelter's are sterile.

We tend to be loners with language expression difficulties, many are in the computer field as programmers & techies.

Otherwise we are like the rest of the population.

XYY, XYYY & other variations have different personality traits that set the apart somewhat from the general population.

[DrBermant]

They will feel & measure your testicles, penis, arm span, height., male & female hormones, thyroid, & a genetic karyotype blood test for chomosomes.

If you have the Mosaic version it is very hard & expensive to detect.  You can have 46/47 xy/xxy chromosomes scattered around the body.  

My xxy chromosomes are in the upper body & have almost no upper body hair. Some have boobs & some do not.  I have them.  

The Mosaic version have a few live sperm & can produce a child after usually hundreds of attempts.

Full Klinefelter's are sterile.

We tend to be loners with language expression difficulties, many are in the computer field as programmers & techies.

Otherwise we are like the rest of the population.

XYY, XYYY & other variations have different personality traits that set the apart somewhat from the general population.

Yes, the normal work up for this problem can be rather extensive and not simple at all.  Expense can be very high for some.  

Starting Testosterone treatment can have a major impact.  Sadly I have found a number of undiagnosed Klinefelter's Syndrome patients over the years that were missed by pediatricians and family doctors.  Each was found by clinical examination red flags that Endocrinologists helped set up for me.  They were then evaluated by an Endocrinologist, treatment started, stabilized, and then surgical correction done.

I know of full Klinefelter's Syndrome patients who have had children through testicular biopsy for fertilization.  However, it can also be very expensive and unreliable process.

Hope this helps,

Michael Bermant, MD
Learn More About Gynecomastia and Chest Sculpture

[hypo]

It certainly is sad when anyone suffers from a lack of diagnosis and treatment for Klinefelters Syndrome and in fact from any underlying condition that results in hypogonadism or other problems.

Unfortunately, not only is Klinefelters Syndrome, Hypogondism and Hemochromatosis far less rare than has been previously thought, but they are also commonly still not diagnosed until later in life.

I hope that the system you have Dr Bermant is not something that is supposed to replace the very necessary work that endocrinologists have in seeing gynecomastia patients prior to referral for surgical procedures- given your expertise lies in the surgical field.

I would have thought given your excellent surgical reputation, a referral to an endocrinologist, followed by a subsequent referral to yourself would be the ideal way for many people to achieve the best outcome.






 

[ASP23]

okay, this is where im at now, i went to my primary care physician on thursday, had blood work done to test my levels of testosterone, but after discussing previous problems in comparison to klinefelters, my family feels it would be a good idea to go to an endocrinologist. im having a lot of mixed feelings as of right now because everything is pending, and the only problems ive had in life seem to line up pretty much to this syndrome. im feeling pretty nervous as to the outcome of everything. if it happens to be mosaic, is there anyway to be sure that i wont miss this important information in the test run by the endocrinologist? besides my nipples being cone shaped, i have also went through treatment for ADD and depression, but even though ive been on a lot of different medications for depression, they never seem to work and just make things worse even after waiting out the time to adjust to the medication. on top of that i have random hand tremors that seem to happen at some point everyday, i have a really hard time after working out for years gaining strength and muscle mass, my hips still remain a hard point to get rid of no matter how much cardio i do, they have put me on several sleep aids trying to get me on a normal sleep schedule but they never seem to work, sexual confusion has pretty much always been in there from childhood. just a lot of this is overwhelming, idunno, ill just keep posting updates on here until i figure out whats really going on. thank you for all of your input, it really means a lot.

ASP23

[Gine2D]

Many of the anti-depressant meds will mess up the hormones.  It sometimes takes months & even years to get them straight again.  They can be a sexual desire & function killer.

Good luck on getting the system back in balance.  Be slow on expecting results, it will take a while.  When you are young you want instant results.  That is not the way the body works.

In the meantime try to accept your body as it is & will be in a few months.  Many, many people are worse off than you.