OII Struggles with Genetics

I know about Klinefelter’s syndrome, I ought to I’m treated to alleviate the cause of it, my genetics.

I’ve also been reading about Klinefelter’s syndrome since 1976. Most internet sites, indeed most XXY men would probably say “Klinefelter’s syndrome is a Genetic abnormality/aneuploidy/anomaly/condition/disease/disorder.” I however take different view. To me Klinefelter’s syndrome is the symptoms of disease, and the disease is Seminiferous Tubule Dysgenesis, the symptoms of disease everybody now calls “Klinefelter’s syndrome” although it wasn’t always known by that name, the original name is Seminiferous Tubule Dysgenesis – feel like you’re on a round-about? Seminiferous Tubule Dysgenesis and Klinefelter’s syndrome are synonymous.

However, MY genetics are not the only genetics that can cause this syndrome. More karyotypes than the XXY karyotype in the phenotypic male CAN cause the symptoms of disease known by me as Seminiferous Tubule Dysgenesis, and by most other people as Klinefelter’s syndrome. Since a great many different karyotypes can lead to those same symptoms of disease in a phenotypic male, we can’t say XXY is synonymous with Klinefelter’s syndrome. What is also little known is we don’t know how many XXY phenotypic males have no symptoms of disease at all, they do not have Klinefelter’s syndrome.

OII does not represent those people, as some of those people are phenotypic females who are fertile and will only come to the attention of the medical profession by accident. The rest are phenotypic males, the difference being the expression of the SRY gene, normally found on the Y chromosome.

If the SRY gene is active, it is said to be positive and represented with the + symbol, SRY+.
If the SRY gene is inactive, it is said to be negative and represented with the – symbol, SRY-.

All biological men are SRY+.
All persons with Klinefelter’s syndrome are SRY+.
ALL XXY SRY+ persons are male.

Persons who are SRY- do not have, and cannot have Klinefelter’s syndrome, as they are phenotypic females. I think maybe 3 XXY females are described in medical literature, because of their rarity, not because they have any relevant medical disease.

On Organisation Intersex International’s website we can read:

Some examples of wrong-headed diagnostic paradigms are:

  • All XX CAH individuals are female.
  • All XXY individuals are male.
  • All AIS individuals are female.
  • All 5-ARD individuals are male.
  • I’m only going to deal with the second statement, and below comment, which are both is MISLEADING.

    ALL of those statements are untrue. Consequently when an XXY individual is treated they will be offered testosterone “to make a man of them” causing great distress and often dreadful medical consequences.

    OII also knows full well than anybody turning up for an appointment with an Endocrinologist, is offered Testosterone therapy as he is a phenotypic male, suffering from hypergonadtropic hypogonadism, another name for the symptoms of the disease, Seminiferous Tubule Dysgenesis, or Klinefelter’s syndrome. OII is seeking to trick the reader into believing that the XXY karyotype and Klinefelter’s syndrome are not related.

    OII know full well that it’s the genes individuals have on their chromosomes, not the structure or shape or name of the chromosomes, that determine the external sex of the individual. OII knows full well there are XX phenotypic males and XXY phenotypic females. To say “All XXY individuals are male” is true when applied to the above comment, as all those XXY’s that they are referring to do indeed have unambiguously male genitalia.

    The only XXY men I’ve seen claim they were told that testosterone was “to make a man of them” (since they were already men) are the XXY phenotypic male members of Organisation Intersex International, all of which do indeed take testosterone therapy, none of whom suffered at all at the hands of the medical professionals treating their symptoms of disease.

    They were not caused “great distress” and there are not “often dreadful medical consequences” of testosterone therapy. I was diagnosed as a teenager, I was lucky I suppose, all the XXY men of OII were diagnosed as adults who had many years of hypogonadism affecting them. Then they described unbelievable consequences of either being XXY or taking testosterone therapy. As with all medications there are side effects, and doctors are looking out for those side effects, and USUALLY start XXY males at low dosage Testosterone Replacement Therapy.

    For the XXY males of OII they report outrageous claims, such as one claims to have developed Deep Vein Thrombosis from a medical procedure that would have the equivalent consequence of pulling a tooth! Another claims to have internal female reproductive organs, and as you can see I know how to link to medical reports, but that report you will not find, as it only exists in folk lore! And another claims to have been masculinised against his will, when all he would have needed to do was stop the hormone therapy and he’d have stopped masculinising. And a recent laughable report by Hida Viloria that one of their anonymous members would “die” if he stopped taking his hormone therapy.

    I was told I MIGHT qualify for hormone therapy IF my body showed a need for it. I was first diagnosed in 1976, but I did not ‘qualify’ for hormone therapy until October 6th 1977. There was no overwhelming desire to treat with testosterone, no force was involved, no trickery, only good common medical sense. I was already a male, I had been all my life, no-one ever suggested I would become a “real man” if I took testosterone therapy. In fact from memory I believe I asked for testosterone therapy. Without testosterone therapy I was very likely to develop Osteoporosis at a very young age, due to androgen deficiency. I can’t understand why none of their accounts include warnings about developing Osteoporosis? I can’t understand why they weren’t diagnosed with a degree of Osteoporosis before they began their treatment, unless of course they’re just not saying?

    All these XXY phenotypic males, with unambiguously male genitalia, and extra-ordinary intelligence, have some very unusual stories to offer as justification for their need to be included as being intersex. They were all diagnosed as adults, and all claim some symptoms of Klinefelter’s syndrome in their teenage years, when they were not diagnosed. They have all stated one way or another that they want to “fit in somewhere.”

    I suggest they all ought to be evaluated for Munchhausen syndrome, as XXY men are known for elaborate story telling, when relating to their own medical circumstances.