T Nation

Klinefelter's Syndrome?


Hi gents

Been following the site for 10yrs but this is the first time I've felt the need to comment.

I'll jump straight into it, I have ridiculously tiny testicles, always have - grape size at best.

I've been more and more depressed lately with zero sex drive. I've always had highs and lows, motivational periods and periods where I've wanted to stay in bed - I've never been consistent.

Had my bloods back today although the doctor refused to give me a copy (I'm working on getting them now).

Everything, glucose, thyroid, estrogen, estradiol, bone density,were normal.

LH 3.3 and FSH 10.7 were normal (according to him).

My testosterone was 4.2 where normal was 7 and above (I could not read the screen clearly from that distance).

Those values were all he'd give me in writing.

Whilst with me he ran the symptoms passed an endocrinologist on the phone who ordered more bloods and a follow up. I have no children, this prompted the endo to mention Klinefelter's syndrome, XXY chromosone.

Now this almost certainly means no kids, but we'll determine whether the diagnosis is correct through a genetic test.

So I'm pretty upset, my girlfriend is inconsolable.

The problem I have is that a lot of the primary characteristics of Klinefelder's (those which aren't symptoms of low T) just don't seem to apply to me - learning difficulties, especially language (I was fluent bilingual at 3!), gyno (I couldn't get it if I tried, and I took lots of AAS!) lack of facial or body hair, lack of bone density, muscle and co-ordination (I was an international athlete in my teens, although I was a late developer).

I am 6'5" and have always been relatively more muscular/stronger than my peers and although difficult to gain weight I've managed and maxed out at over 300lbs - currently 240.

The only corresponding symptoms are the depression, and lack of libido which are symptomatic of low T. And of course ny grape size balls.

At age 24 I took my first AAS and cycled on and off up til a couple years ago. My small balls and general malaise were prevalent before the AAS.

Has anyone got any experience of this sort of scenario? Nothing will be determined until I see the endo and get the genetic tests done of course, but any help would be appreciated; reading up on Kleinfelter's is depressing stuff!


Normal does not always mean healthy
When looking at people lab results a lot of dr's do not do a complete evaluation of hormones
Dr's rarely look for the cause of the issue and treats symptoms which can snow ball resulting in person feeling worse. Many man complain about Dr's saying "you are in the normal range" . The range applies to most likely the general population of 70 year old and not people your own age. The adrenals are often neglected and are the main cause of alot of hormonal imbalance. The thyroid is only tested at the surface and the dr misses the other 90% of the puzzle.

If you are looking for a dr look for a person that specializes in HRT not an endo or urologist because these dr's 90% of them are diabetic dr's or prostate handlers. If you are in the northeast PM me and I will be glad to give reference to a good MD specializes in finding the cause.


I understand. The next stop is the second bloodtest, followed by an appointment with an endo - I won't know his credentials until I'm sat opposite him - that is the beauty of the NHS. I am based in the UK hence the National Health Service. Thank you for the comment and offer though.

Are my FSH and LH normal?


Good question:

Horm Res. 2008;69(6):317-26. Epub 2008 Mar 17. Links
Testicular function in Klinefelter syndrome.

Wikström AM, Dunkel L.
Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland. anne.wikstrom@fimnet.fi
Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. During childhood, and even during early puberty, pituitary-gonadal function in 47,XXY subjects is relatively normal, but from midpuberty onwards, FSH and LH levels increase to hypergonadotropic levels, inhibin B decreases to undetectable levels, and testosterone after an initial increase levels off at a low or low-normal level. Hence, most adult KS males display a clear hypergonadotropism with a varying degree of androgen deficiency; subsequently, testosterone substitution therapy is widely used to prevent symptoms and sequels of androgen deficiency. Testicular biopsies of prepubertal KS boys have shown preservation of seminiferous tubules with reduced numbers of germ cells, but Sertoli and Leydig cells have appeared normal. The testes in the adult KS male are, however, characterized by extensive fibrosis and hyalinization of the seminiferous tubules, and hyperplasia of the interstitium, but the tubules may show residual foci of spermatogenesis. Introduction of testicular sperm extraction in combination with intracytoplasmic sperm injection techniques has allowed non-mosaic KS males to father children. (c) 2008 S. Karger AG, Basel [/i]

LH and FSH are pulsatile normally, and should be "high" in primary testicular failure.
These Finnish researchers indicate elsewhere that post-pubertal men with KS have an exaggerated excretion of LH and FSH on GnRH stimulation (from the hypothalamus).
(That is not important to your diagnosis; if your doctor thinks KS is possible, a simple genetic test is diagnostic.)

This observation raises a question, the answer to which I have not yet found. If LH and FSH rise in an exaggerratied fashion with GnRH, will a SERM (clomid, tamoxifen, etc) raise GnRH and induce normal testosterone secretion?
(Practically speaking, this is too complicated where testosterone replacement is simple, but it opens the question of fertility for KS men, something which was once unthinkable. )


Found it. Note the date (!)

and G. L. FOSS
Medical Research Council, Clinical Endocrinology Unit,
2 Forrest Road, Edinburgh EHI 2QW, and Bristol Subfertility Clinic
{Received 21st July 1970)
Summary. The effect of clomiphene citrate on excretion values for
fsh, lh, testosterone and epitestosterone has been investigated in four
patients with Klinefelter's syndrome.
During the pretreatment period, levels of fsh and lh were above the
normal range for male subjects, while readings of testosterone and
epitestosterone were generally low.
Clomiphene produced a significant increase in fsh output in one subject
and in lh excretion in another. In the remaining patients, pituitary
gonadotrophic function was not affected by the administration of the
compound. The effect of clomiphene on excretion values for Carbolin 19 steroids
was inconsistent.
The study did not provide definite evidence regarding the site of
of action of clomiphene in patients with Klinefelter's syndrome.

Best of luck.


Thanks DrSkeptix. Thanks both for the help so far.

Exactly, LH and FSH should be 'high' in primary hypogonadism. From what I can tell LH @ 3.3 is within range, low normal and FSH @ 10.7 bang in the mid range. Am I correct in assuming that?

That doesn't look to me like a pituitary screaming for attention from the testes?!


KS, oddly enough, has varying degrees of resultant symptoms. Some do well when younger then fizzle out. Some have very low T from the start.

While there is an extra X chromosome, there are, as always, varying degrees of gene expression.

Growing tall is one possible symptom as T levels are not high enough to terminate growth.

You also need an analysis of your semen, as well as testing for XXY.

TRT will, in any case, improve QOL [quality of life].

Other sources of primary hypogonadism can be from viral infections that invade the testicles. If that occurred when young, then the resultant effects on the testes could lead to the same primary hypogonadism symptoms as KS.


Thanks KSman.

Would it help if I explained I come from a tall family? Brothers are only slightly shorter, my grandfather was 6'3"? Also I had a really high sex drive through my teenage years and early twenties, right up until I took AAS. I don't seem to have the physical or mental characteristics of KS nor the delayed puberty and general lack of development.

Could I simply be experiencing the effects of a decade of consistent AAS use and coincidentally have smaller than average testicles? My symptoms are all consistent with low T. I just don't understand the FSH and LH readings.


LH and FSH need to be evaluated in the context of normal range. As LH is released in pulses and has a short half life, its particular value is not very informative. FSH has a longer half life and is more indicative of pituitary output.

If LH and FSH are normal and TT is low and testes are small, that would seem to indicate that the testes are not LH responsive. You could try hCG and see if the testes get larger or TT increases. If that was to work, then a SERM such as clomid or nolvadex could be expected to work. If hCG has no or little effect, then one would have primary hypogonadism. Some would used higher dose hCG to try to recover the testes. One often expects to see high levels of LH and FSH with primary hypogonadism with younger guys as the HPTA would be increasing gonadotrophins. That is seen with KS.

A sperm count and testing for KS will also tell you what road you are traveling.

Can you recall any viral infections? Mumps?

Tallness in your family is an important data point. Again, some KS guys can be normal for a while.

Virilization: Do you have low amounts of body hair? Facial features are strong?

What could be depressing your HPTA? E and prolactin should be measured, if only to rule these out.


Thank you.

Strong male features and hairy on the face, legs, chest and abdomen, even prior to AAS.

Had mumps as a child. You're right of course and a karyotype is the only true way to tell, I was just convinced that I didn't match the KS profile, (except relatively samll testicles) especially in light of previous extensive AAS use.

Incidentally, I measured my testicles on an orchidometer (10 and 12) and I was in the late teen adult range as opposed to the pea size quoted by KS sufferers.

Thanks again for your observations.


Ok so second lot of bloods came back

LH @ 3.9 U/l (1-5-9.3)
FSH @ 10.4 U/L (1.4-18.1)

Prolactin @ 169 mU/L (50-560)

Serum Testosterone 4.2nmol/L (8.0-30.0)

Serum IGF-1 @ 22.8 nmol/L (15.1-40.2)

Previously LH was 3.3, FSH 10.7, Prolactin 184 and Serum testosterone 4.2.

I have a 10 week wait to see an endocrinologist so for the last 3 weeks have taken toremifene at the recommended tapered dosage as per the SERM and AI sticky.

I have no bloods to prove this, but weight is back up, I feel fuller, mood far better and morning erections almost back (not 100% wood but some activity) with some increase in libido.

Entering the 4th week at 30mg ED toremifene, my mood seems to be slipping and libido again almost zero.

Testicular volume has not improved, although they hang normally, except they look like grapes caught in a deflated balloon (they've never been much larger anyway).

I have access to most substances, so whilst I wait the 10 weeks to be seen (and the chances of seeing someone with any clue straight off the bat are slim) can anyone recommend a suitable protocol to kick start things again.

I've been thinking an AI with HCG possibly, keeping in mind that if I am capable (or was) of having kids, I want to maximise my chances of doing so.

If anyone has anything to offer, I thank you n advance.


A few guys with KS can seem to mature and virilize normally then there testes can fail after that.

Your TT is very low and FSH/LH are not low enough to explain this.

If KS, then hCG will not work. Your toremifene response is encouraging. You may have responded to acceleration of T and if T is higher, if the higher T caused higher E, that can wipe out the gains.

Your height is consistent with KS. -yes men in your family are very tall.

Your mumps infection could also blunt your T response to LH. Childhood mumps rarely affects the testes. Adult cases of the mumps are dangerous.

Note that part of your TT=4.2 is T made in your adrenals. The decline in T production in the testes may be greater than the TT=4.2 implies.

"""Everything, glucose, thyroid, estrogen, estradiol, bone density,were normal. """

Note that "normal estrogen" can be very repressive. Without numbers for E2, we are flying blind. Both KS and damage from mumps are primary hypogonadism and one expects higher levels of LH as the HPTA struggles to make T. High levels of E2 can lower LH in normal guys or primary hypogonadism.

T production can be rate limited by low DHEA levels. Its on the shelf here. You need a script to get it there or some unconventional source. Can you get your DHEA-S and pregnenolone levels checked. I would expect that your smaller testes would cause lower pregnenolone levels and DHEA production in the adrenals can be rate limited by lower pregnenolone levels. If DHEA-S levels are low for your age, it would make sense to check AM saliva cortisol levels or do 4 saliva tests in one day.

DHEA levels peak at age 20 and remain quite high through age 30. If your DHEA-S levels are not in the upper range, try 50mg DHEA per day and see how that makes you feel. You could skip the labs and simply try the DHEA to see if that feels helpful. Test DHEA-S. Do not test DHEA.

You do need to have a sperm count done. hCG will lower FSH as this will be HPTA repressive. SERMs increase FSH [and LH]. FSH is important for fertility and may be critical in your condition.

If you can get a drug that is a DHT derivative, that would be good as the sex organs need DHT for development and maintenance. That can also be repressive.


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Thanks KSman and BBB, that's enough to be getting on with I think, for which I'm grateful.

As for past use, I'm afraid it was predominantly tren (between 50mg and up to 100mg ED) + various test esters (often up to 500mg to 1g/week).

I did run a couple of tren only cycles due to limited availability of other bought gear (I was homebrewing the tren), too.

Conversely I've run test e cycles at up to a g a week.

Used Deca a couple of times, Masteron and Stanozolol too, and even Primobolan and Sust as my first cycle.

Orals used were (in no particular order) - oxandrolone, oxymetholone, methandrostenolone, stanozolol and some Proviron.

I've never had any (noticeable/physical) estrogen related issues, barely any water retention and not a hint of itchy/sensitive nipples.

That said I think some of my mood related issues can be attributed to estrogen/estradiol.

Sex drive was always good on and off and only incidence of ED was when on tren only.

Cycle length was typically 10-12 weeks and using orals sometimes ran a few short cycles of 2 weeks on, 4 weeks off, all over a period of approx 10yrs. I wasn't often 'off'.

I just mentioned the above because it was asked, not sure if it'll help much, but looking back over it, it sure does seem like a lot! Idiot.

BBB tried Deprenyl back in Autumn 2006 and liked it, although I'm certain I felt a certain detachment or was less emotional but did enjoy the general feeling of wellbeing. If I recall I was dosing 5mg a day.

Thanks again for taking an interest.


The dose for selegeline [deprenyl] varies by age as dopamine receptor loss progresses with age. 2.5mg would be 17.5 mg per week. 10mg per week might be more reasonable. One could try 2.5mg ED and be watchful for symptoms of dopamine overload, morning headaches, feeling stuffy or congested and not quite right. There is no need to dose deprenyl ED. It does have a short half life, but its half life of MAO-B inhibition in the brain is very long. So there would be little difference between 2.5mg ED and 5.0mg EOD. So one could dose 5.0mg E3D for 11.6mg/week.

Has anything been published about deprenyl lowering prolactin or is this simply an basic dopamine effect? I have been under the assumption that cabergoline had specific primary effects on prolactin that were beyond the basic secondary dopamine effects on prolactin.


Body MOT?

Ministry of Transportation test - a compulsory annual test of older motor vehicles for safety and exhaust fumes

Can we be less obscure?


A British colloquialism I'm afraid, meaning detailed examination - in this instance refering to a movement screen of sorts.


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