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  • Q&A with Australian Health Practitioners

    What specialist should I see for suspected Klinefelters Syndrome ?

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    Congenital & Genetic Conditions Klinefelter Syndrome
    I am an adult and have recently had a scrotal ultrasound that revealed that my right testicle has a volume of 4.6ml and the left 6.9ml. My GP seemed unconcerned but upon further investigation I have learnt that this volume is very low and could indicate Klinefelter syndrome.

    A sperm analysis a few years ago revealed that I could probably not father a child due to the viability of the sperm. Other indicators: low testosterone, social phobia, depression, slight gynaecomastia, arm span greater than height, varicose and spider veins, low libido.

    Are my concerns justified ? Any feedback in this regard would be appreciated.Thank you.
    • 2 answers
    • Lowtguy
    • Dr Simon Easterbrook-Smith
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    Lowtguy

    HealthShare Member

    Good Endocrinologist.

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    Dr Simon Easterbrook-Smith

    Health Professional

    My research interests include immunology and the mechanisms of amyloid formation. The latter has implications for people who are dealing with Alzheimer's Disease, Parkinson's Disease … View Profile

    I think that you should get your GP to take a blood sample and send it to a cytogenetics lab for analysis.

    The technicians there will be able to do a karyotype (ie, looking for the “extra” X chromosome in your blood leucocytes, which is diagnostic of Klinefelters Syndrome - there is nothing special about leucocytes in this context -  they are just a good source of chromosomes).

    If the cytogenetics confirms that you do have Klinefelters Syndrome then you might find the links in this site helpful in terms of options that you can discuss with health professionals: http://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/basics/definition/CON-20033637 .

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