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

And you can find notes at 0 to finals.com slash Turner and in the 0 to finals pediatrics book.

So let's jump straight in.

Turner syndrome occurs when a female has a single X chromosome, making them 45XO.

The O here indicates an absence of the other X chromosome.

It can also be written as 45x.

Mosaicism can occur in which some cells of the body contain XO sex chromosomes, or a single X chromosome,

while other cells in the body have the normal XX sex chromosomes. Essentially part of the body, some of the cells are

affected, but others are not. This typically results in milder symptoms. Let's go through the features.

The features of Turner Syndrome include short stature, a webbed neck,

a broad chest with widely spaced nipples,

a high arching palate meaning that the roof of the mouth is higher than normal,

downward sloping palpable fissures,

and the palpable fissures are the gaps between the lower and the upper eyelid, meaning the opening of the eye, and these are downward sloping, so the inner part of the eye is higher than the outer part of the eye.

Prominent epicantic folds, and the epicanthic folds are the folds of skin

overlying the medial portion of the eye and the eyelid.

A low posterior hairline, meaning the hair comes down lower at the back towards the neck.

Cubitus valgus, which is an exaggerated angle at the elbow, with the forearm angled away from the body.

A short fourth metacarpal bone, which results in a shortened fourth finger.

Hypogonadism with underdeveloped ovaries,

late or incomplete puberty,

and infertility.

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