Indication

Klinefelter's syndrome

Klinefelter's syndrome is a sex-chromosome disorder in phenotypic males caused by the presence of one or more supernumerary X chromosomes, most commonly manifesting as a 47,XXY karyotype. Read more about Klinefelter's syndrome

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About Klinefelter's syndrome.

Klinefelter's syndrome is a sex-chromosome disorder in phenotypic males caused by the presence of one or more supernumerary X chromosomes, most commonly manifesting as a 47,XXY karyotype.

The condition primarily impacts the endocrine and male reproductive systems, characterized pathologically by progressive testicular fibrosis, seminiferous tubule hyalinization, and primary hypogonadism.

Defining clinical features include microorchidism, low testosterone production, hypergonadotropic hypogonadism, azoospermia, and consequent infertility.

Additional manifestations frequently include tall stature with eunuchoid proportions, gynecomastia, reduced body and facial hair, decreased muscle mass, and variable neurocognitive or metabolic complications.

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