Turner syndrome
Turner syndrome is a medical condition affecting only females; this happens when one of the X chromosomes (usually two X sex chromosomes) is missing. Turner syndrome can cause various medical concerns, such as short height, developmental failure in ovaries, and heart defects.
Symptoms
Signs of Turner syndrome differ among girls and women with the disorder.
Almost every female with Turner syndrome will grow shorter than average height, and underdeveloped ovaries can result in a lack of periodic menstrual cycles and infertility.
General Features
- A notably short, wide neck (webbed neck)
- A broad chest and widely spaced nipples
- A low hairline
- Teeth concerns
- A significant digit of moles
- Small, spoon-shaped nails
- A short fourth finger or toe
- Eyes that slant downwards
- Droopy eyelids (ptosis)
- Cataracts – cloudy patches in the lens
Causes
Two sex chromosomes are responsible for birth.
Two sex chromosomes are responsible for birth.
- Males obtain the X chromosome from their mother’s egg and the Y chromosome from their father’s sperm
- Females inherit one X chromosome from each parent
In females with Turner syndrome, X chromosome one is missing, partly missing, or altered.
The missing can be because of the following;
- Absence of one chromosome because of the defect in either a father’s sperm or mother’s egg
- Error in the cell division
- X chromosome changes
Treating Turner syndrome
There is still no cure for Turner syndrome, but many associated symptoms can be ministered.
Women and girls with Turner syndrome need to have their hearts, kidneys, and reproductive system regularly reviewed. Regardless, leading a reasonably simple and healthy life is usually possible.
Life expectancy gets slightly decreased, but it can enhance with regular health assessments by identifying and treating potential medical concerns at an early stage.
Reviewed by – Dr. Priyanka, MBBS MD Microbiology
Page last reviewed: 04 October 2022