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Are oligozoospermia, diabetes and hyperlipidemia symptoms of Klinefelter's syndrome?

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Posted on Thu, 10 Dec 2015
Question: I have Klinefelter syndrome mosaicism (10%). All my lipids are high (above range), 99 fasting glucose, very high estrogen 226 pg/ml, normal testosterone (4ng.ml). very low sperm (<1M) count and low quality.
Trying to have kids, have IVF lined up soon. Want to improve sperm quality.
Also want to get lipids and sugar under control.
Local endocrinologist not very useful.
What should I do, they say aromatase inhibitors not great?
doctor
Answered by Dr. Binu Parameswaran Pillai (1 hour later)
Brief Answer:
Klinefelter and associated problems

Detailed Answer:
Good day,
Noted your concern.In klinefelter Mosaicim, the genetic abnormality is only present i certain tissues, but not all tissues. So you may not have all minifestations of Klinefeter syndrome. Low sperm count +/- small testes volume is very classic of klinefelter syndrome. Testosterone levels may be low normal in many cases.

Diabetes and lipid abnormalities are very common in klinefelter syndrome. However, your fasting glucose of 99 is normal. Since you have klinefelter mosaicism and age above 40 years, it is advisable to do an Hba1c and 75 gram Glucose tolerence test to identify your risk of develooping diabetes.

High lipids should be treated with Statins. You need to check your cardiovascular risk by using ASCVD risk score calculator which can be done online or by downloading(free) in your smart phone from google playstore / apple store. You just need to key in your age, race, lipid details etc and it will calculate the rsik score. If you have a risk score of above 7.5%, then please start a statin.

Since you have elevated estrogen levels, aromatase inhibitors may be tried. However, efficacy is doubtful. But still worth a try. It may not be useful in improving sperm count.

In Klinefelter due to defects in seminiferous tubules, sperm quality and quantity is often low and IVF combined with ICSI may be required. Many a times, sperm aspiration from testes is required. Please remember that, there is a possibility of transferring the disease to offspring by this method.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Binu Parameswaran Pillai (6 hours later)
Many thanks Dr. XXXXXXX
Very succinct,... kudos.
According to my PCP my risk score currently is 3.7%
Per current guidelines, a statin is recommended if LDL is 190 or more. However, using the current 10 year risk calculator, my 10 year CVD risk is low at 3.7%.

I am most interested in reducing estrogen, and would be interested in raising testosterone if it can boost sperm count etc....
We have had 5 miss-carrages, I guess due to low count and poor morphology.

What about testosterone + aromatase?
Not sure about HCG treatment, can you explain that?

I know I am on the edge of metabolic syndrome, but whats the links are there between all these results? Testicular function? Estrogen~LDL?

FYI I am not fat. 6'3" 200 lbs. my fitness and diet are good.
testicles 12 cc, penis normal size. IQ 162 (I am a professor)

Kind regards,
XXXXXXX


CHOL <200 mg/dl 336 (H)
TRIGLYCERIDE <200 mg/dl 271 (H)
HDL >34 mg/dl 47
CHOL/HDL 7.1 . . .
VLDL, CALC 0 - 40 mg/dl 54 (H)
LDL, CALCULATED 10 - 129 mg/dl 235 (H)
T4, FREE 0.9 - 1.8 ng/dl 1.2
GLUCOSE, FASTING 70 - 99 mg/dl 99
TSH 0.55 - 4.78 uIU/ml 1.51
doctor
Answered by Dr. Binu Parameswaran Pillai (47 hours later)
Brief Answer:
Need statin

Detailed Answer:
Hello,
Apologies for the delay. Unfortunately, i didnt get an alert message in my phone about your follow up question.

Looking at your LDL and your age, you satisfy the criteria for treatment. Once you are above 40, and if LDL is more than 190, it is recommended to start statins. One good thing is that your HDL is good.

Testers size is low at 12 ml ( normal above 15 to 25 ml). TEstosterone treatment may further reduce size of testes and reduce sperm count. In Klinefelter/mosaic, FSH and LH are often rised and hence hCG treatment is not an option.

Aromatase ihibitors may help to reduce estrogen levels and hence reduce chances of gynecomastia. They may not improve sperm count.

In a Case of Klinefelter syndrome oligospermia and infertility, the fertility options are either

a) spontaneous (which can occur)
b) Assisted techniques like testicular aspiration and IVF and
c) adoption.

Metabolic syndrome is often associted with KS/mosaic and hence it is not surprising to see high sugars and cholesterol levels.


Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
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Dr. Binu Parameswaran Pillai

Endocrinologist

Practicing since :2003

Answered : 1435 Questions

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Are oligozoospermia, diabetes and hyperlipidemia symptoms of Klinefelter's syndrome?

Brief Answer: Klinefelter and associated problems Detailed Answer: Good day, Noted your concern.In klinefelter Mosaicim, the genetic abnormality is only present i certain tissues, but not all tissues. So you may not have all minifestations of Klinefeter syndrome. Low sperm count +/- small testes volume is very classic of klinefelter syndrome. Testosterone levels may be low normal in many cases. Diabetes and lipid abnormalities are very common in klinefelter syndrome. However, your fasting glucose of 99 is normal. Since you have klinefelter mosaicism and age above 40 years, it is advisable to do an Hba1c and 75 gram Glucose tolerence test to identify your risk of develooping diabetes. High lipids should be treated with Statins. You need to check your cardiovascular risk by using ASCVD risk score calculator which can be done online or by downloading(free) in your smart phone from google playstore / apple store. You just need to key in your age, race, lipid details etc and it will calculate the rsik score. If you have a risk score of above 7.5%, then please start a statin. Since you have elevated estrogen levels, aromatase inhibitors may be tried. However, efficacy is doubtful. But still worth a try. It may not be useful in improving sperm count. In Klinefelter due to defects in seminiferous tubules, sperm quality and quantity is often low and IVF combined with ICSI may be required. Many a times, sperm aspiration from testes is required. Please remember that, there is a possibility of transferring the disease to offspring by this method.