Clinical Features of Turner Syndrome
Common physical characteristics, including short stature and webbed neck
Turner Syndrome is a chromosomal disorder affecting females, leading to distinctive physical features such as short stature and a webbed neck, along with other systemic complications.
Clinical Features of Turner Syndrome
Introduction
Turner Syndrome (TS) is a chromosomal disorder affecting females, characterized by the absence or abnormality of one X chromosome. This condition leads to various physical and medical features, including short stature and webbed neck.
Common Physical Characteristics
Short Stature
Short stature is one of the most prominent features of Turner Syndrome. Individuals with TS typically exhibit growth deficiencies, with adult height averaging significantly below normal standards. Growth hormone therapy is often used to manage this condition.
Webbed Neck
A webbed neck is another common characteristic, resulting from excess skin folds due to lymphatic system abnormalities during fetal development.
Other Clinical Features
- Cardiovascular abnormalities (e.g., congenital heart defects)
- Endocrine issues (e.g., ovarian insufficiency, infertility)
- Renal abnormalities affecting kidney function
- Neurodevelopmental and cognitive differences
Diagnosis and Management
Diagnosis is established via karyotyping and genetic testing. Management includes growth hormone therapy, hormone replacement therapy, cardiac care, and psychological support.
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