Schereshevkii-Turner Syndrome

Schereshevkii-Turner Syndrome: Symptoms, Causes, Types, Diagnosis, and Treatments

Schereshevkii-Turner Syndrome, commonly known as Turner Syndrome (TS), is a chromosomal condition that affects only females. First described by Dr. Nikolai Schereshevsky in 1925 and later by Dr. Henry Turner in 1938, this disorder arises when one of the X chromosomes is missing or partially missing. Although the syndrome impacts a variety of body systems, early diagnosis and proper management can significantly improve quality of life.

In this blog post, we’ll delve deep into the symptoms, causes, types, diagnosis, and treatment options for Turner Syndrome. Whether you are a medical professional, a parent, or someone seeking awareness, this comprehensive guide will give you a thorough understanding of this rare genetic condition

What is Schereshevkii-Turner Syndrome?

Schereshevkii-Turner Syndrome (TS) is a genetic disorder affecting females, in which one of the X chromosomes is either completely or partially missing. In a typical female, there are two X chromosomes (46,XX). However, in Turner Syndrome, the karyotype often shows 45,X, indicating a complete absence of one X chromosome in some or all cells.

It is estimated that Turner Syndrome occurs in approximately 1 in 2,000 to 2,500 live female births. Despite being a lifelong condition, many girls and women with TS can lead full and productive lives with appropriate medical and emotional support.

Symptoms of Schereshevkii-Turner Syndrome

Symptoms of Turner Syndrome vary widely depending on the individual, age, and degree of chromosomal abnormality. Symptoms can appear during infancy, childhood, or adolescence, and sometimes are not recognized until puberty or adulthood.

Common Physical Features:

• Short stature (often noticeable by age 5)
• Webbed neck (extra skin folds extending from the tops of the shoulders to the sides of the neck)
• Low-set ears
• Broad chest with widely spaced nipples
• Swelling of hands and feet (lymphedema) in newborns
• Low hairline at the back of the neck
• Skeletal abnormalities
• Short fingers and toes

Developmental and Reproductive Symptoms:

• Delayed puberty
• Infertility due to underdeveloped ovaries
• Lack of menstrual periods (amenorrhea)
• No growth spurts during childhood or adolescence
• Premature ovarian failure

Other Health Concerns:

• Heart defects, especially coarctation of the aorta
• Kidney abnormalities
• Hearing loss
• Autoimmune disorders (like hypothyroidism or celiac disease)
• Vision problems
• Learning disabilities (especially in math and spatial reasoning)
• Frequent ear infections

Causes of Turner Syndrome

Turner Syndrome is a chromosomal condition caused by a missing or structurally altered X chromosome. It is not typically inherited, as most cases are the result of random events during cell division in reproductive cells or in early fetal development.

Chromosomal Mechanisms Behind Turner Syndrome:

1. Monosomy X (45,X):
   • The most common form, accounting for around 50% of cases.
   • A complete loss of one X chromosome.
2. Mosaicism (45,X/46,XX or 45,X/46,XY):
   • In some individuals, only a portion of the body’s cells lack an X chromosome.
   • Results in milder symptoms.
3. Partial Deletion or Structural Abnormalities:
   • X chromosome is present but has missing or rearranged sections.
   • Examples: isochromosome, ring chromosome, or deletion of Xp or Xq arm.
4. Y Chromosome Material:
   • Rarely, TS individuals may have fragments of Y chromosome material.
   • Increases the risk of gonadoblastoma, a type of tumor.

Types of Turner Syndrome

Turner Syndrome is categorized based on karyotype variations, each with different clinical implications.

Classic Turner Syndrome (45,X)

• Complete absence of one X chromosome.
• Usually associated with more severe physical and reproductive features.

Mosaic Turner Syndrome (45,X/46,XX or other combinations)

• Some cells have two X chromosomes; others have only one.
• Milder features; some may experience spontaneous puberty or menstruation.

Isochromosome Xq (46,X,i(Xq))

• One X chromosome has two long arms and lacks short arms.
• Often associated with ovarian failure and short stature.

Ring X Chromosome (46,X,r(X))

• X chromosome forms a ring due to missing ends.
• Variable symptoms; some may have intellectual disabilities.

Partial Deletion Turner Syndrome

• Only part of the X chromosome is missing.
• Clinical severity varies depending on the missing region.

Diagnosis of Schereshevkii-Turner Syndrome

Diagnosis can be made prenatally, during infancy, childhood, or adolescence, depending on symptom severity and presentation.

Prenatal Diagnosis

• Ultrasound Findings: Cystic hygroma, heart defects, kidney anomalies.
• Non-invasive Prenatal Testing (NIPT): Analyzes fetal DNA in maternal blood.
• Amniocentesis or Chorionic Villus Sampling (CVS): Confirms diagnosis via karyotyping.

Postnatal Diagnosis

• Physical Examination: Noting physical features such as short stature or webbed neck.
• Karyotype Test: A chromosomal analysis to confirm TS.
• FISH (Fluorescence In Situ Hybridization): Detects mosaicism or subtle chromosomal abnormalities.

Additional Diagnostic Tools

• Echocardiogram: To detect heart defects.
• Renal Ultrasound: To check kidney abnormalities.
• Hearing Test: To identify early hearing loss.
• Hormonal Tests: To assess estrogen, FSH, and LH levels.
• Thyroid Function Tests: Screen for autoimmune thyroid diseases.

Treatment Options for Turner Syndrome

While there is no cure for Turner Syndrome, various treatments help manage symptoms and complications, enabling affected individuals to live healthy and fulfilling lives.

Growth Hormone Therapy

• Recombinant human growth hormone (GH) is used to increase final adult height.
• Often started in early childhood.
• Given via daily injections.

Estrogen Replacement Therapy

• Initiated during puberty (around age 11-14) to induce:
  • Breast development
  • Menstruation
  • Uterine growth
• Often followed by cyclic estrogen-progestin therapy to maintain menstruation.

Fertility Treatments

• Women with TS are often infertile due to nonfunctioning ovaries.
• Options include:
  • Egg donation with IVF
  • Assisted reproductive technologies (ART)
  • Hormone support during pregnancy
• A cardiovascular assessment is crucial before pregnancy due to associated heart risks.

Surgical Interventions

• Heart surgery for defects like coarctation of the aorta.
• Ear tube insertion to prevent chronic ear infections.

Management of Associated Conditions

• Thyroid disorders: Managed with thyroid hormone replacement.
• Hearing aids for hearing loss.
• Medication for hypertension or diabetes, if present.

Psychological and Educational Support

• Early interventions help address learning difficulties and social challenges.
• Counseling and therapy may be useful for:
  • Self-esteem issues
  • Social development
  • Coping with infertility

Living with Turner Syndrome: Outlook and Prognosis

With early diagnosis and proper treatment, most individuals with Turner Syndrome can expect a normal life expectancy and a high quality of life.

Key Lifestyle Recommendations:

• Regular medical follow-ups for cardiac, renal, endocrine, and gynecologic health.
• Healthy diet and physical activity to prevent obesity and cardiovascular problems.
• Bone health monitoring and calcium/vitamin D supplements to reduce osteoporosis risk.

Recent Advances and Research

Advances in genetics and reproductive medicine have significantly improved the management of Turner Syndrome:

• Gene therapy is under investigation.
• Fertility preservation techniques, including ovarian tissue cryopreservation, are evolving.
• Early digital monitoring tools help track growth and development.

Research continues to explore how specific genes on the X chromosome contribute to TS manifestations. The development of tailored therapies is a promising field in Turner Syndrome care.

Conclusion

Schereshevkii-Turner Syndrome is a complex yet manageable genetic disorder that affects only females. While the absence or abnormality of an X chromosome presents several challenges—from short stature and infertility to heart defects and learning difficulties—advancements in medical science have transformed the outlook for those with TS.

Early diagnosis, a personalized treatment plan, and emotional support can make a profound difference. Parents, caregivers, and patients should work closely with a team of healthcare professionals—including endocrinologists, cardiologists, fertility experts, and therapists—to ensure optimal health and well-being.

Frequently Asked Questions (FAQs) About Schereshevkii-Turner Syndrome

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