Desperately Seeking Dx
New Member
Maybe someone here can advise me on where and how to proceed next. Perhaps there is some obscure hormone level or something else that the doctors have neglected to test for that would unlock the mystery of my condition. I am in despair that I will ever get an answer, much less any treatment.
I am a middle-aged man with virtually no libido, very little physical or emotional energy, no ambition, no overall drive, no "get up and go." I have been this way my entire adult life.
In addition, I have a very unusual body type. It is--as the geneticist who examined me described it--"like two halves of two different bodies sewn together at the waist." My lower half looks like a normal adult man's body, including normal-sized genitalia (albeit with little sexual function), while my upper body remains severely underdeveloped. My arms are unusually long (wingspan exceeds height), slender, almost feminine in the way they taper off (my long thin fingers easily wrap around my wrists). My chest and stomach look like the trunk of an over-grown little boy's body. I have no male breasts--no "pecs"--just two pink nipples on top of a thin layer of skin stretched over my rib cage. When I went through puberty, no muscle, no fat, no "meat" developed on my arms or chest. I went from being short and frail to tall and frail; the long bones in my limbs lengthened to give me six feet of height without any appreciable thickening of bones or muscle; my shoulders remained quite narrow. And the body hair on my upper half is markedly lighter in color and texture and sparser than on my lower half.
My physical symptoms were odd enough that the geneticist ordered a karyotype to be done, to rule out definitively Klinefelter's Syndrome. It came back 46, XY, with no apparent chromosome abnormalities observed (with the caveat that low-level mosaicism might not be detected). Kallmann Syndrome and Marfan Syndrome were also eliminated as possibilities.
The blood serum tests, which were done twice by different labs, presented somewhat ambiguous results, though not dramatic enough to warrant treatment in the doctors' eyes. Basically, my testosterone-level indicators tended to be on the lower end of normal, while those for my estrogen (not tested the first time) were on the high end of normal for a man. There was at least one indicator on both tests that was just outside of normal range, though which one it was varied on each: rather high SHBG on the first, somewhat low percentage of free testosterone and somewhat high estrone on the second. Making comparisons difficult was the fact that each blood lab utilized different scales (there being no universal industry standard).
BLOOD SERUM TEST #1
TESTOSTERONE, TOTAL, LC/MS/MS 897 ng/dL 250-1100 ng/dL
TESTOSTERONE, FREE 60.7 pg/mL 46.0-224.0 pg/mL
TESTOSTERONE, BIOAVAILABLE 124.8 ng/dL 110.0-575.0 ng/dL
SEX HORMONE BINDING GLOBULIN 77 nmol/L 10-50 nmol/L
FSH 4.0 mIU/L 1.6-8.0 mIU/L
LH 3.0 mIU/L 1.5-9.3 mIU/L
BLOOD SERUM TEST #2
TESTOSTERONE 471 ng/dL 300-890 ng/dL
TESTOSTERONE, FREE CALCULATION 69 pg/mL 47-244 pg/mL
TESTOSTERONE, PERCENTAGE FREE 1.5 % 1.6-2.9 %
SEX HORMONE BINDING GLOBULIN 50 nmol/L 11-80 nmol/L
FSH 3.82 mIU/L 1.27-19.26 mIU/mL
LH 1.59 mIU/L 1.24-8.62 mIU/mL
ESTRADIOL 42 pg/mL <20-47 pg/mL
ESTRONE 36.3 pg/mL 9-36 pg/mL
PROLACTIN 5.21 ng/mL 2.64-13.13 ng/mL
Should add that I suffered a bad fall down an entire flight of basement stairs and hit my head on a drainage pipe at the bottom when I was six years old. I have often wondered whether this might account for the above described condition and a host of other problems that I have had since then: Irritable Bowel Syndrome, difficulty concentrating, potential autism, teeth grinding. Perhaps the pituitary gland or the hypothalamus was injured in the fall and this damage to the master signaler has thrown a lot of systems in my body out of whack, including my sex hormone levels. Unfortunately, I have not been able to get the doctors to pay much attention. At most, they run the standard battery of tests, claim they could not find anything seriously wrong, then give up. Any advice on how to proceed, especially on talking to the doctors, would be greatly appreciated.
I am a middle-aged man with virtually no libido, very little physical or emotional energy, no ambition, no overall drive, no "get up and go." I have been this way my entire adult life.
In addition, I have a very unusual body type. It is--as the geneticist who examined me described it--"like two halves of two different bodies sewn together at the waist." My lower half looks like a normal adult man's body, including normal-sized genitalia (albeit with little sexual function), while my upper body remains severely underdeveloped. My arms are unusually long (wingspan exceeds height), slender, almost feminine in the way they taper off (my long thin fingers easily wrap around my wrists). My chest and stomach look like the trunk of an over-grown little boy's body. I have no male breasts--no "pecs"--just two pink nipples on top of a thin layer of skin stretched over my rib cage. When I went through puberty, no muscle, no fat, no "meat" developed on my arms or chest. I went from being short and frail to tall and frail; the long bones in my limbs lengthened to give me six feet of height without any appreciable thickening of bones or muscle; my shoulders remained quite narrow. And the body hair on my upper half is markedly lighter in color and texture and sparser than on my lower half.
My physical symptoms were odd enough that the geneticist ordered a karyotype to be done, to rule out definitively Klinefelter's Syndrome. It came back 46, XY, with no apparent chromosome abnormalities observed (with the caveat that low-level mosaicism might not be detected). Kallmann Syndrome and Marfan Syndrome were also eliminated as possibilities.
The blood serum tests, which were done twice by different labs, presented somewhat ambiguous results, though not dramatic enough to warrant treatment in the doctors' eyes. Basically, my testosterone-level indicators tended to be on the lower end of normal, while those for my estrogen (not tested the first time) were on the high end of normal for a man. There was at least one indicator on both tests that was just outside of normal range, though which one it was varied on each: rather high SHBG on the first, somewhat low percentage of free testosterone and somewhat high estrone on the second. Making comparisons difficult was the fact that each blood lab utilized different scales (there being no universal industry standard).
BLOOD SERUM TEST #1
TESTOSTERONE, TOTAL, LC/MS/MS 897 ng/dL 250-1100 ng/dL
TESTOSTERONE, FREE 60.7 pg/mL 46.0-224.0 pg/mL
TESTOSTERONE, BIOAVAILABLE 124.8 ng/dL 110.0-575.0 ng/dL
SEX HORMONE BINDING GLOBULIN 77 nmol/L 10-50 nmol/L
FSH 4.0 mIU/L 1.6-8.0 mIU/L
LH 3.0 mIU/L 1.5-9.3 mIU/L
BLOOD SERUM TEST #2
TESTOSTERONE 471 ng/dL 300-890 ng/dL
TESTOSTERONE, FREE CALCULATION 69 pg/mL 47-244 pg/mL
TESTOSTERONE, PERCENTAGE FREE 1.5 % 1.6-2.9 %
SEX HORMONE BINDING GLOBULIN 50 nmol/L 11-80 nmol/L
FSH 3.82 mIU/L 1.27-19.26 mIU/mL
LH 1.59 mIU/L 1.24-8.62 mIU/mL
ESTRADIOL 42 pg/mL <20-47 pg/mL
ESTRONE 36.3 pg/mL 9-36 pg/mL
PROLACTIN 5.21 ng/mL 2.64-13.13 ng/mL
Should add that I suffered a bad fall down an entire flight of basement stairs and hit my head on a drainage pipe at the bottom when I was six years old. I have often wondered whether this might account for the above described condition and a host of other problems that I have had since then: Irritable Bowel Syndrome, difficulty concentrating, potential autism, teeth grinding. Perhaps the pituitary gland or the hypothalamus was injured in the fall and this damage to the master signaler has thrown a lot of systems in my body out of whack, including my sex hormone levels. Unfortunately, I have not been able to get the doctors to pay much attention. At most, they run the standard battery of tests, claim they could not find anything seriously wrong, then give up. Any advice on how to proceed, especially on talking to the doctors, would be greatly appreciated.
