Turner syndrome is a disease where a chromosome is missing.
Understanding Turner Syndrome
Turner syndrome is a genetic condition that affects only females. It occurs when one of the X chromosomes is missing or partially missing. This missing or incomplete chromosome leads to several health and developmental issues.
How Does it Happen?
- Females typically have two X chromosomes (XX).
- In Turner syndrome, one of these X chromosomes is either missing entirely (monosomy X) or is structurally abnormal.
- This chromosomal abnormality can happen randomly during the formation of reproductive cells (eggs or sperm) or during early fetal development.
Effects of Turner Syndrome
The absence or abnormality of the X chromosome can lead to various problems:
- Short stature: Individuals with Turner syndrome are usually shorter than average.
- Ovarian insufficiency: The ovaries do not develop properly, leading to reduced hormone production and infertility.
- Heart defects: Various heart problems can occur.
- Other developmental issues: such as kidney problems, hearing issues and other challenges.
Diagnosis and Management
- Turner syndrome is often diagnosed during infancy, childhood, or adolescence based on physical signs or during prenatal testing.
- Early diagnosis is critical for managing health complications.
- Treatment can include growth hormone therapy to increase height and hormone replacement to help with puberty.
- Ongoing monitoring and support can help manage health conditions and optimize quality of life.
| Feature | Description |
|---|---|
| Gender Affected | Females only |
| Cause | Missing or partially missing X chromosome |
| Key Symptoms | Short height, ovarian insufficiency, heart problems |
| Diagnosis | Prenatal, infancy or childhood |
| Treatment | Hormone therapy, medical management |
