Could my boyfriend have KS?

Hi again,

So my boyfriend went for both a blood test and a sperm test. He does have low sperm count but good motility. His urologist suggests trying for a couple of years before going down the artificial insemination route. She said that the chances of natural pregnancy are low but still remotely possible. As for the blood test, the testotrone level is low but still within the normal range. 

We are still unsure of what all this means. I guess it might not rule out Klinefelter's. In any case, it was good that he went to the doctors. Thanks again for listening to me go on. 

Low Testosterone but within the normal range is typical for men with KS.  When I was between 16 and17 and my balls were less than 1.0ml volume I had low normal testosterone.  Your b/f's results do not unequivocally rule out KS.  

I suggest a second opinion.     

Thanks again. We are going to see a fertility specialist soon to look over the results and explore options. I've been trying to find out for sure without much luck: do men with klinefelters actually have sperm in their ejaculate? Most forums on conceiving with KS say no, that XXY men have azoospermia. Do you happen to know? Thanks so much! You are by far one of the most knowledgable person on the syndrome that I've come across. 

From 2000, that's 16's years old,  the title is  "Ejculated spermatozoa in patients with non mosaic Klinefelters syndrome"   it is written by a bunch of Japanese doctors, ansd I can't copy & paste from a PDF file, or work out how to save it in another format, but you can search for it.  It does say most KS guys are infertile, that they do have azoospermia, but also details some who don't, do have sperm in their ejaculate and can produce children by ICSI and other fertility treatments.

I have several other documents that detail fertility in XXY males, one called      "Long term outcome in children of sex chromosome abnormalities" by Dr Shirely Ratcliffe, that mentions an Israeli XXY man with normally sized and functioning testes, so we can't just assume all XXY's have no sperm at all, or can't have some sperm in their ejaculate, or in their testes that need help getting out.

If I can search for and find articles on fertility options for XXY's why do you suppose these people in these other groups can't?   I suppose these people are struck in their ways, they stop looking but researchers don't.  Science never stops.           

Hi again. So the plot thickens. My boyfriend's karyotype came out as 46xy. He has been seeing an endocrinologist and is diagnosed as having primary hypogonadism resulting from unknown causes. Although he has been prescribed chlomid to try to boost testosterone levels, the doctor thinks it is a shot in the dark and might not help. What is really frustrating is that no one is giving us any answers. They are saying "well, the hormone levels are not going crazy, but we have no idea why." Does anyone have any experience/knowledge of why someone might exhibit signs of KS (high FSH/LH, low testosterone, no facial hair, small testicles) but NOT be XXY? 

sorry. I meant "hormone levels ARE crazy"

Oky doky, yes it is popssible to be 46XY (on trhe face of it) and have KS.  I suggest a careful study of your b/f's X is required here, he MAY have an a repeat sequence on his X?  Send me a PM and I'll give you the details of just such a man on Facebook, he's a friend  of mine I'm sure he won't mind chatting to you.   I think Clomid is a shot in the dark too, Clomid boosts gonadotropins LH and FSH and XXY males tend to have elevated LH and FSH so there's hardly any point.  It may be that his doctor thinks he has Kallamnn syndrome, or a version of it,  but that's secondary hypogonadism, that may respond well to Clomid therapy?  It cewrtainly is a mystery though. Origionally Klinefleters syndrome was confirmed by biopsy of the testes, when seminiferous tubule dygenesis was found, that may be the next  test done, you might lie to suggest it to your b/f and his doctors?    

Oky doky, yes it is possible to be 46XY (on the face of it) and have KS.  I suggest a careful study of your b/f's X is required here, he MAY have a repeat sequence on his X?  Send me a PM and I'll give you the details of just such a man on Facebook, he's a friend  of mine I'm sure he won't mind chatting to you.   I think Clomid is a shot in the dark too, Clomid boosts gonadotropins LH and FSH and XXY males tend to have elevated LH and FSH so there's hardly any point.  It may be that his doctor thinks he has Kallamnn syndrome, or a version of it,  but that's secondary hypogonadism, that may respond well to Clomid therapy?  It certainly is a mystery though. Originally Klinefelters syndrome was confirmed by biopsy of the testes, when seminiferous tubule dygenesis was found, that may be the next  test done, you might like to suggest it to your b/f and his doctors?    

(spelling corrected - hopefully?)

He may be a mosaic xy/xxy. I am xxy. I had a karotype blood test and a buccal skin scrape from the inside of my mouth, which resulted in my 47 chromosomes test which designated me as a xxy male or with Klinefelters Syndrome back in 1982.

Some individuals do undergo a biopsy of their testes but I don't know anyone who has undergone that procedure.

Hopefully the doctors can determine why he has primary hypogonadism. I was diagnosed with primary hypogonadism back in 1982 but nowadays, I assume there are more accurate testing,now.

Good luck.

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