Hello and welcome to the Zero to Finals podcast.

My name is Tom, and in this episode I'm going to be talking to you about Kleinfelter Syndrome.

If you want to follow along with written notes on this topic, you can follow along at

0.0.5.com slash Kleinfelter or in the genetic conditions section of the zero-definals pediatrics book.

So let's get straight into it.

Kleinfelter syndrome occurs when a male has an additional X chromosome, making them 47XY.

Under normal circumstances, males have an X and a Y sex chromosome, and females have 2 X sex chromosomes.

Rarely people with Kleinfelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXxy. This is associated with more severe features. So what are the features?

Usually patients with Kleinfelter syndrome appear as normal males until puberty. At puberty, they can then

develop features suggestive of the condition.

And these are features such as taller height, wider hips, gynecomastia, weaker muscles,

small testicles, reduced libido, shyness, infertility and subtle learning disabilities, particularly affecting speech and language.

Let's talk about the management. There's no way to treat the underlying genetic cause of Kleinfelter syndrome.

Treatment aims to help with the features of the condition, and this may involve testosterone

injections, which can improve many of the symptoms. Advanced IVF techniques have the potential

to allow fertility, and breast reduction surgery can be used for gynecomastia for cosmetic purposes.

They also need input from the multidisciplinary team,

such as speech and language therapists who can improve speech and language,

occupational therapist to assist with day-to-day tasks, physiotherapists to strengthen muscles

and joints, and educational support where required for dyslexia and other learning difficulties.

Let's talk about the prognosis.

Life expectancy is close to normal.

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