Turner Syndrome
Turner syndrome is a rare genetic condition that affects females.
Overview
Turner syndrome is a rare genetic condition that affects females. It occurs when one of the two X chromosomes is missing or partially missing. The condition can affect growth, development of the ovaries, heart health and other body systems. Features and severity vary between individuals.
Causes and Genetics
Turner syndrome occurs when all or part of one X chromosome is absent. This usually happens by chance during early development. The condition is not typically inherited, and most cases occur sporadically.
Symptoms and Features
Features can vary widely and may be recognised at birth, during childhood or at puberty.
Characteristic Symptoms and Features
- Short stature
- Delayed growth
- Delayed or absent puberty
- Infertility due to underdeveloped ovaries
- Some babies may have swelling of the hands and feet or a broad neck with extra skin folds
Other Associated Symptoms and Features
- Heart abnormalities
- High blood pressure
- Hearing problems
- Recurrent ear infections
- Kidney differences
- Thyroid disorders
- Learning difficulties, particularly with spatial awareness and mathematics
Treatment
Regular monitoring of heart health, blood pressure, thyroid function and hearing is important. Fertility counselling and specialist reproductive support may be offered. Care is usually coordinated through specialist endocrine services.
Research and Future Directions
Ongoing research is focused on improving understanding of the long-term health risks associated with Turner syndrome, including heart health and fertility. Advances in hormone treatment and early diagnosis continue to improve quality of life and long-term outcomes.