Hi, this is Tom, and in this episode I'm going to be going through

Kleinfelter Syndrome. And you can find notes at 0.0 tofinals.com slash

Kleinfelter and in the 0 to finals pediatrics book.

It's also worth mentioning the new finals revision book, which you can get at

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or really to get ahead at any stage of medical school.

So let's jump straight into this episode on Kleinfelter Syndrome.

Kleinfelter Syndrome occurs when a male has an additional X chromosome, making them 47 XXY.

They have 47 chromosomes in total, and their sex chromosomes are XXY.

Under normal circumstances, males are XXY. Under normal circumstances, males have XY sex chromosomes

and females have XX sex chromosomes.

Rarely, people with Kleinfelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXXY.

Although this is rare, it's associated with more severe features.

Mosaicism can occur, in which some of the cells of the body contain XXY sex chromosomes,

while others contain the normal XY sex chromosomes.

Mosaicism typically results in milder symptoms.

Let's talk about the features of Kleinfelter syndrome.

Patients with Kleinfelter syndrome appear as normal males until puberty.

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