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Diagnosis

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diagnosis

KS is typically diagnosed during adulthood when infertility, hypogonadism or gynecomastia are common presentations (1).

  • a study carried out between 1990–1993 revealed that 64% of KS patients goes undiagnosed while 10% are diagnosed prenatally and 26% are diagnosed in prepuberty or adulthood (2)
  • this was confirmed in a very large study of the Danish national registry

Diagnosis of KS is carried out

  • prenatally - through invasive techniques such as chorionic villus sampling, amniocentesis and cordocentesis. These should be accompanied by suitable genetic counselling and clinical support (2)
  • in the postnatal period
    • karyotype analysis of peripheral blood - considered to be the gold standard in diagnosis of KS
    • elevated follicle-stimulating hormone, luteinizing hormone and estradiol levels and low to low-normal plasma testosterone levels
    • increased urinary gonadotropins - due to abnormal Leydig cell function (3)

Reference:


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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