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GeneticICD-10: Q96Affects approximately 1 in 2,500 female births worldwide

Turner Syndrome

Also known as: Monosomy X, 45,X syndrome

Turner syndrome is a chromosomal condition that affects only females, occurring when one of the X chromosomes is missing or partially missing. It can cause a variety of medical and developmental problems including short stature, ovarian failure, and heart defects. With appropriate medical care, most women with Turner syndrome can lead healthy, productive lives.

Symptoms

Short stature
Delayed puberty or absent menstruation
Webbed or wide neck
Low-set ears
Broad chest with widely spaced nipples
Swelling of hands and feet in infancy
Heart defects, particularly coarctation of the aorta
Infertility in most cases
Learning difficulties in certain areas such as spatial awareness

Causes

  • Complete or partial absence of one X chromosome
  • Random error in cell division during formation of reproductive cells
  • Mosaicism where some cells have two X chromosomes and others have one

Risk Factors

  • No known maternal or paternal risk factors
  • Random chromosomal event; not inherited in most cases

Diagnosis

  • Karyotype analysis showing 45,X or mosaic pattern
  • Prenatal detection through amniocentesis or chorionic villus sampling
  • Physical examination noting characteristic features
  • Echocardiogram to assess for heart defects
  • Hormone level testing

Treatment

  • Growth hormone therapy to increase height
  • Estrogen replacement therapy to initiate puberty and maintain bone health
  • Cardiac monitoring and surgical repair of heart defects
  • Assisted reproduction with donor eggs for fertility
  • Regular screening for associated conditions such as thyroid disease and diabetes
  • Educational support and psychological counseling

Prevention

  • No known prevention as it results from a random chromosomal event
  • Prenatal testing is available for diagnosis but not prevention

When to See a Doctor

  • Delayed growth or short stature in girls
  • Absent or delayed puberty
  • Characteristic physical features of Turner syndrome
  • Known diagnosis requiring ongoing specialist care

Frequently Asked Questions

Related Conditions

Down Syndrome

Genetic

Hypothyroidism

Endocrine

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Medical Disclaimer: This content is for educational and informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider.

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