Turner Syndrome

What is Turner Syndrome?

Turner Syndrome (TS) is a genetic condition that affects females and occurs when one of the X chromosomes is missing or partially missing. This leads to a range of developmental and medical challenges, including short stature, delayed puberty, infertility, and heart or kidney problems.

It affects about 1 in every 2,000–2,500 female births worldwide.

What Causes Turner Syndrome?

Humans typically have 46 chromosomes, including two sex chromosomes — XX in females and XY in males. Turner Syndrome occurs when:

• One complete X chromosome is missing (monosomy X), or

• One X chromosome is partially missing or altered.

This chromosomal change is usually random and not inherited from parents.

Types of Turner Syndrome

• Classic Turner Syndrome: Entire X chromosome is missing.

• Mosaic Turner Syndrome: Some cells have two X chromosomes, others have only one X or are missing part of an X.

• Partial Deletion: Only part of one X chromosome is missing.

Common Features of Turner Syndrome

The severity and symptoms vary, but common characteristics include:

Physical Features

• Short stature (often noticeable by age 5)

• Broad chest with widely spaced nipples

• Small lower jaw (micrognathia)

• Low hairline at the back of the neck

• Webbed neck (extra skin folds)

Sexual Development Differences

• Underdeveloped ovaries

• Delayed puberty

• Infertility

Associated Medical Conditions

Turner Syndrome can affect various organ systems:

• Bones: Increased risk of scoliosis, osteoporosis

• Cardiovascular System: Congenital heart defects like coarctation of the aorta

• Immune System: Higher risk of autoimmune disorders (e.g., Hashimoto’s thyroiditis)

• Hearing and Vision: Hearing loss, increased risk of ear infections, vision problems

• Kidneys: Structural abnormalities like horseshoe kidney

Symptoms of Turner Syndrome

• Slow growth and delayed height gain

• Swelling of hands and feet at birth

• Irregular or absent menstrual cycles

• Learning difficulties in math or spatial concepts (but normal intelligence in most cases)

• Frequent ear infections

Diagnosis of Turner Syndrome

Early diagnosis is important for better management. At Sparsh Diagnostic Centre, Kolkata, the diagnostic process includes:

1. Physical Examination

Pediatricians may detect signs like short stature, delayed growth, or specific facial and body features.

2. Chromosomal Analysis (Karyotype Testing)

The definitive test — detects missing or altered X chromosome.

3. Additional Tests

Depending on symptoms, doctors may order:

• Echocardiogram & ECG — to check heart structure and function

• Renal ultrasound — to detect kidney anomalies

• Hearing and vision tests

• Hormone level tests — The main hormone tests include:

  1. Follicle-Stimulating Hormone (FSH)

  • Usually elevated in Turner Syndrome due to ovarian insufficiency.

  • High levels indicate the ovaries aren’t producing enough estrogen.

  2. Luteinizing Hormone (LH)

  • Often elevated as well, for the same reason as FSH.

  • Helps confirm primary ovarian failure.

  3. Estradiol (E2)

  • Usually low in TS patients because the ovaries are underdeveloped or non-functional.

  • Guides decisions on estrogen replacement therapy.

  4. Anti-Müllerian Hormone (AMH)

  • Very low or undetectable in most TS cases, reflecting the reduced ovarian follicle reserve.

  • Useful for fertility assessment.

  5. Thyroid Function Tests

  • TS patients are at higher risk of autoimmune thyroid disease (Hashimoto’s).

  • Tests include:

    • TSH (Thyroid-Stimulating Hormone)

    • Free T4 (Free Thyroxine)

  6. Other Hormonal Checks (as needed)

  • Cortisol & ACTH — if there are signs of adrenal issues

  • Insulin & Glucose tolerance tests — due to increased diabetes risk

  • IGF-1 — if monitoring growth hormone therapy response.

Treatment for Turner Syndrome

Turner Syndrome has no cure, but early intervention can greatly improve quality of life. Treatment focuses on managing symptoms and preventing complications.

1. Growth Hormone Therapy

• Administered in childhood to increase height

• Most effective when started early

2. Estrogen Replacement Therapy

• Helps trigger puberty and develop secondary sexual characteristics

• Usually continued until menopause age to maintain bone health

3. Fertility Treatment

• Most women with TS are infertile, but pregnancy may be possible with donor eggs and assisted reproductive techniques under medical supervision.

4. Cardiac and Kidney Care

• Regular monitoring by cardiologists and nephrologists

• Surgery if structural defects are present

5. Hearing and Vision Support

• Hearing aids for hearing loss

• Glasses or corrective surgery for vision issues

6. Psychological Support

• Counseling for self-esteem, emotional well-being, and coping strategies

Complications of Turner Syndrome

If untreated, TS may lead to:

• Short adult height

• Infertility

• Heart defects and increased risk of aortic dissection

• Osteoporosis

• Chronic ear infections and hearing loss

Living with Turner Syndrome

With early diagnosis, proper treatment, and regular follow-up, individuals with TS can lead fulfilling lives. Many complete education, have successful careers, and enjoy strong social relationships.

Prevention

Turner Syndrome cannot be prevented, as it is a genetic condition. However, genetic counseling may help families understand risks in future pregnancies.

When to See a Doctor

Seek medical evaluation if your child shows:

• Unexplained slow growth

• Delayed puberty

• Physical features associated with TS

• Recurrent ear infections or heart murmurs

Why Choose Sparsh Diagnostic Centre for Turner Syndrome Diagnosis in Kolkata?

• Accurate genetic testing with expert laboratory facilities

• Advanced ultrasound and echocardiography

• Comprehensive care team — pediatricians, endocrinologists, cardiologists, nephrologists

• Holistic support for patients and families

📞 Call 9830117733 / 8335049501 to book your appointment.

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