Turner Syndrome: Symptoms, Causes, Treatment
متلازمة تيرنر
Turner syndrome is a chromosome condition involving complete or partial absence of one X chromosome, sometimes in only some cells. It can affect growth, ovarian function and the heart, requiring multidisciplinary care throughout life.
What is Turner Syndrome?
Features vary widely. Diagnosis may occur before birth or after short stature or delayed puberty becomes apparent. General intelligence is usually typical, although specific learning, spatial or social difficulties may benefit from tailored support.
Related reading: How do prenatal genetic screening and diagnostic tests differ?.
Symptoms
Features may include short stature, delayed puberty or absent periods, swollen hands and feet in some newborns, and hearing, heart or kidney abnormalities. All features do not need to be present before considering assessment.
Causes
Most cases arise by chance during egg or sperm formation or early cell division, rather than from anything the mother did during pregnancy. Chromosome number or structure may be affected, and not everyone has the same chromosome pattern.
Risk factors
Most cases occur without family history or a known modifiable risk factor. Chromosome findings and cardiac abnormalities inform care, but the chromosome pattern alone cannot predict every ability or future support need.
Diagnosis
Chromosome analysis confirms the diagnosis following evaluation. Heart and aortic structure, blood pressure, kidneys, hearing, thyroid function and growth are assessed according to age. Prenatal screening is not always diagnostic; results need specialist genetic interpretation.
Treatment
Selected children may receive growth hormone; estrogen supports puberty and bone health when needed. Associated conditions require treatment. Reduced fertility is common but not universal. Any spontaneous or assisted pregnancy needs specialist cardiac assessment beforehand and may be discouraged when risk is high.
Complications
Complications may include aortic enlargement, structural heart disease, hypertension, ovarian insufficiency, low bone density and hearing or thyroid problems. Risks vary with findings. Absence of symptoms does not remove the need for surveillance, particularly cardiovascular checks.
Prevention
The usual chromosome change cannot be prevented. Regular checks, blood-pressure control and bone, hearing and thyroid care limit complications. Activity is adapted to heart findings, with planned transfer from pediatric to adult services.
When to see a doctor
Abrupt severe chest, back or neck pain, fainting or breathlessness requires emergency assessment for possible aortic or cardiac disease. Seek review for delayed puberty, hearing changes or pregnancy plans. Hormone replacement does not provide reliable contraception.