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Turner Syndrome

(also: Monosomy X, XO Syndrome)

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General Information

Turner Syndrome is an intersex variation wherein a person is born with a 45X chromosome pattern (sometimes known as 45XO) instead of the typical 46XX.

Someone with Turner Syndrome can develop variations in their other sex characteristics as a result of their chromosome pattern; such as smaller-than-typical ovaries that may stop producing hormones at a younger age than typical. They may not menstruate or experience pubertal changes. The body of someone with Turner Syndrome may also have some specific physical characteristics, such as a broad chest, a webbed neck, short stature, and medical problems with their heart.

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Mosaic Turner Syndrome

Mosaic Turner Syndrome can occur when some of a person's cells has 45X chromosomes, while other cells have a different pattern, such as 46XX or 46XY. People with Mosaic Turner Syndrome and 45X/46XX chromosomes may have fewer noticable signs of this intersex variation than people who have a 45X chromosome pattern in all of their cells. For example, someone is more likely to go through the changes of a typical estrogen-based puberty and to start menstruating if they have a 45X/46XX chromosome pattern.

Someone who has a 45X/46XY chromosome pattern may be born with testicular tissue that produces hormones, and they often go through a typical testosterone-based puberty if they do. Someone with this variation of Turner Syndrome may be born with a penis & scrotum, and without any visible variations. They may also have genital differences such as a micropenis or hypospadias. They may also have a typical-appearing vulva and clitoris.

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