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A Journal on Internal Medicine

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Minerva Medica 2001 October;92(5):385-92

language: Italian

Klinefelter's syndrome: diagnosis and treatment. A case report

Martini R.


Klinefelter's syndrome affects 1 in 500 men across all ethnic groups but the diagnosis is often delayed because of substantial variations in clinical presentation.
A 26 year-old male came to observation for chronic fatigue. His laboratory data and radiological examination were negative. Examination showed eunuchoidal body habitus with sparse facial hair, small and firm testes and no gynecomastia. The patient had heterosexual orientation with regular sexual intercourses but diminished libido. Serum gonadotropin concentrations were raised while serum testosterone concentration was low-normal level. Serum PRL concentration and thyroid function were normal. Seminal analysis revealed azoospermia and peripheral lymphocyte karyotyping showed a 47,XXY karyotype, confirming diagnostic suspicion. Patient was given testosterone enanthate 200 mg intramuscularly every 2 weeks. He noted improvements in fatigue and libido and increase of muscle mass.
Since the true prevalence of Klinefelter's syndrome is very high, the diagnosis of this disease should be considered in every men with complaints related to hypogonadism (fatigue, weakness, gynecomastia, infertility, erectile dysfunction, small testis and osteoporosis). Testosterone replacement therapy should be started early to minimize the physical and psychological effects of androgen deficiency. There have been recent advances in the options for the treatment of infertility in patients with Klinefelter's syndrome: however findings that this syndrome may be transmitted by the new assisted reproductive techniques is cause for concern.

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