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Klinefelter syndrome

Information from the Medical Directory health library.

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This information supports, and does not replace, advice from your healthcare professional.

Overview

Klinefelter syndrome is a genetic condition in males caused by an extra X chromosome, affecting physical and cognitive development.

Symptoms

Taller than average stature Reduced muscle tone and strength Delayed puberty and small testes Infertility Learning difficulties or language delays

Causes

Extra X chromosome (47,XXY karyotype) Genetic mutation during sperm or egg formation

Diagnosis

Physical examination Hormone testing Genetic testing (karyotype analysis)

Treatment

Testosterone replacement therapy Fertility treatments if desired Speech and educational support Physical therapy and counseling for psychosocial support

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