Turner Syndrome: Difference between revisions
No edit summary |
No edit summary |
||
| Line 9: | Line 9: | ||
Turner syndrome can be diagnosed before birth, or during infancy. However, the diagnosis can be delayed in girls with mild signs and symptoms until early adulthood. | Turner syndrome can be diagnosed before birth, or during infancy. However, the diagnosis can be delayed in girls with mild signs and symptoms until early adulthood. | ||
== Mechanism of Injury / Pathological Process | == Mechanism of Injury / Pathological Process == | ||
* When there is an error in the sperm of the father or mother’s egg and every cell of the baby will have one X chromosome this condition is called '''Monosomy,''' in which there is a complete absence of one X chromosome. | |||
* In '''Mosaicism''' if when the error happens during fetal development in cell divisions we will find some cells have only one chromosome and others will have two copies. | |||
* '''X chromosome changes,''' in which the cell will have one complete and one altered copy, all cells will have one complete and one altered copy of the X chromosome when the error happens in the sperm or egg or happens in cell divisions early during ''fetal development'' | |||
* '''Y chromosome material, some cells will have one copy of X chromosomes and''' one copy of the X chromosome, and some Y chromosome material in other cells. And this presentation is considered a risk factor to develop gonadoblastoma. | |||
== Clinical Presentation == | == Clinical Presentation == | ||
Revision as of 22:56, 20 March 2022
This article or area is currently under construction and may only be partially complete. Please come back soon to see the finished work!
Introduction[edit | edit source]
It is a genetic condition that happens only in females when the sex chromosomes are missing causing medical and developmental problems such as; short height, failure of the ovaries to develop, and heart defects.
Turner syndrome can be diagnosed before birth, or during infancy. However, the diagnosis can be delayed in girls with mild signs and symptoms until early adulthood.
Mechanism of Injury / Pathological Process[edit | edit source]
- When there is an error in the sperm of the father or mother’s egg and every cell of the baby will have one X chromosome this condition is called Monosomy, in which there is a complete absence of one X chromosome.
- In Mosaicism if when the error happens during fetal development in cell divisions we will find some cells have only one chromosome and others will have two copies.
- X chromosome changes, in which the cell will have one complete and one altered copy, all cells will have one complete and one altered copy of the X chromosome when the error happens in the sperm or egg or happens in cell divisions early during fetal development
- Y chromosome material, some cells will have one copy of X chromosomes and one copy of the X chromosome, and some Y chromosome material in other cells. And this presentation is considered a risk factor to develop gonadoblastoma.
Clinical Presentation[edit | edit source]
There is variety in the severity of signs and symptoms among females. In some girls with turner syndrome, the symptoms may not be clear, while in others, several physical features start early. Signs and symptoms may be developing slowly over time, or significant, such as heart defects.
Signs and symptoms at birth or during infancy may include:
Signs and symptoms in childhood, teens, and adulthood
Diagnostic Procedures[edit | edit source]
add text here relating to diagnostic tests for the condition
Outcome Measures[edit | edit source]
add links to outcome measures here (see Outcome Measures Database)
Management / Interventions
[edit | edit source]
add text here relating to management approaches to the condition
Differential Diagnosis
[edit | edit source]
add text here relating to the differential diagnosis of this condition
Resources
[edit | edit source]
add appropriate resources here
