Kleinfelters/De la Chapelle Syndrome

[Dudewithboobs]

I recently experienced an uncomfortable growth spurt and during it I found myself googling what may be causing it. A hormonal test in June revealed I had hypogonadism which felt good enough but a later hormonal test revealed better numbers and hypogonadism was not in the test notes. Making me curious if you can “cure” hypogonadism by simply bettering your levels. To which Google says yes. 
So back to square one. 
I have a fertility visit in the coming weeks and was reading Kleinfelters and De La Chapelle (which came up in my searches and honestly sounded more like a French cuisine than a condition) and read these two conditions are often and frequently not noticed and diagnosed until later in life. Most commonly in late 30s and often during examinations for fertility issues. I feel this was just like a sign of sorts of hey buddy pay attention here. 
I understand it’s probably not these things. But idk. I have always had a lower shape that was more feminine than male, teased often for my hips and backside. But didn’t experience breast development until my 30s. 
Always had minimal body hair, never had much of a libido, struggled often function since early 20s and overall just feel now days in hindsight there’s been an issue never paid attention to cause I didn’t care and I was too busy with other things to count it as a concern. 

What’s the chances I could have KF or DLCS? Is this something I should address with the fertility doctors or my NP or someone else? I understand a karotype test is needed and my concern is the cost of one as well. 

I feel I went down a rabbit hole and curious what those who have been diagnosed if any may be able to say about it. 

[Justagirl💃]

My tests came back PMDS which caused developmental issues in the womb. Needless to say I have a uterus and fallopian tubes to go along with not developing the other appendage. 

I'm visibly intersex, but several tests were needed to nail down the actual condition. 
I also found most doctors use the "don't fix it if it's not broke" attitude when it comes to ordering tests as well. 

I'm glad I did get things done because it answered a lot of questions. 

[Justagirl💃]

I kept bringing it up at every 6 months exam. He finally ordered an ultrasound then ordered a complete panel of blood work when those results came in. 

Hot flushes and night sweats were my main complaint. Come to find out my hormones were premenopausal levels (now menopause). 

Also I went from a D cup to know an F cup in three years time, so my body went for a hormonal loop. 

They thought about HRT for the hot flushes, but I refused testosterone and would only agree to estrogen. They considered it, but decided to just leave things to ride out on their own. 

My monthly IBS I have had since my youth was re-diagnosed as my system was trying to cycle. Now the IBS has finally subsided now that I don't cycle anymore. Imagine that. 

Managing the "don't fix it if it isn't broke" mentality of the medical field is murder. 

[taxmapper]

The variations are vast. 
The possibility of 45XXX, 46XX male, Kleinfelder's, PMDS, or any other DSD condition. 

it boils down at least for me two primary things: 

1: Dont consider how others will take you, because they really don't matter in the end. Leave them as best you can if they are toxic.
2: Dont look at it as a "condition" that must be treated or 'cured".  But part of your body that you maintain like anything else. 

[WPW717]

WOW. If your not familiar with my history a perusal of my posts may shed some light. 
4 years long and it took a lot of ‘ hey, look at this’ and then a ‘there, there, you’re just getting old’.
You must be persistent, but polite. The argument to let us rule out is a strong argument to do something.

As far as growth spurts… despite having dropped to zero in both hormones - estrogen and testosterone- over the years and a bilateral orchiectomy a Prolactinoma & elevated prolactin really filled out my bust line. It’s more common than thought and is closely related to fertility issues. It also was very noticeable that the amount and character of my mostly missing hair decreased further. There is more but I will stop here. Further reading on MEN syndrome is an idea.
I wish you well in this endeavor, I actually had best response to kick things up the ladder with an NP.
It probably helped as I was an OR RN with a long history in practice. Good luck.

[WPW717]

The ‘ history’ of being in the field was completely negated as I had been retired for years and I had been practicing a state away from my current residence. It was my insistence that the NP have a look at the gyne as it is significant and new. I also knew she would take the bait when I said I would need some refresher on BSE ( breast self examination techniques.
 
Her look of surprise at the bosom was validating and got her attention.

Embarrassment, naw, not from. 40 y/o RN in clinical practice. Insist on an Endocrinologist referral, start keeping a medical journal and be politely insistent. 
Remember that a lab test or results are only a snapshot in time. The trends are more important. The hypogonadism is literally the tip of the iceberg. Further exploration is warranted. Dead end?, switch Docs.

[Desmondo036]

It's definitely a good idea to bring up your symptoms with your fertility doctor, especially when it comes to Klinefelter or De La Chapelle. The symptoms you’re describing (less body hair, changes in libido, body shape) could point to chromosomal abnormalities. A karyotype test is key, but first, discuss it with a doctor to prioritize testing.

Tests can be expensive, but health comes first. In cases of potential issues like these, doctors can help you find ways to fund the necessary tests 🙂