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Turner syndrome
Make it clearer
Turner syndrome is a disorder of the sex chromosomes. It affects people with a female phenotype who have one intact X chromosome and are missing the second sex chromosome, in whole or in part.
To understand why that absence matters, you need to know something about the X chromosome. In someone who has two, one of them is almost entirely inactivated, so carrying two copies does not mean producing twice as much. But some genes escape that inactivation, and for those both copies are needed. When one is missing, the result is haploinsufficiency, that is, half the dose of that gene's product, and that affects several systems in the body. With only one copy of those genes, the dose is cut in half.
The best studied gene in this syndrome is SHOX. Its haploinsufficiency contributes to growth deficits and to scoliosis, which is sideways curvature of the spine.
In brief
Turner syndrome is a sex chromosome disorder in people with a female phenotype who have one intact X and partial or complete absence of the second.
Losing one copy of the genes that escape X inactivation results in haploinsufficiency and affects several systems.
With only one copy of those genes, the dose is cut in half.
The best studied is SHOX, whose haploinsufficiency contributes to growth deficits and scoliosis.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingTurner Syndrome, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated