About Turner Syndrome

Gain essential insights into Turner Syndrome. Deepen your understanding and know the support options available to help your loved ones navigate this health condition.
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Dr. Henry H. Turner, MD (1892–1970)
About Dr. Henry H Turner

Understanding Turner Syndrome

Turner Syndrome is a genetic disorder in women who fully or partially miss one of the X chromosomes.

Chromosomes are like the instruction manuals for our bodies. They are packed with DNA molecules that govern our physical traits and health functions. Typically, all females are born with two X chromosomes and males with one X and one Y chromosome.

This explains why Turner Syndrome is restricted to females. It is a spectrum disorder that includes a range of symptoms and conditions that vary from one individual to another.

Some women with Turner syndrome may have underdeveloped ovaries, or they may be short-statured. However, not everyone with this condition will have these characteristics. Yes, the health implications can range from cardiovascular diseases, thyroid dysfunction, diabetes, renal issues, and hearing deficiencies.

With appropriate care and support, many young girls and women with Turner Syndrome can lead fulfilling lives and achieve positive long-term health outcomes.

Understanding Turner Syndrome not only sheds light on a unique chromosomal condition but also emphasises the broader themes of genetic diversity and the human body’s remarkable complexity. Early intervention and personalised care can make a meaningful difference for many women and girls with this condition.

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Significance of World Turner Syndrome Day

World Turner Syndrome Day is commemorated on August 28th each year to raise awareness about Turner syndrome and support those affected by this genetic condition.

This date holds special significance as it marks the birth anniversary of Dr. Henry Turner (August 28, 1892), the endocrinologist who first described Turner syndrome in 1938.

By recognising this day, we honour his contribution to medical science while advocating for better understanding, early diagnosis, and comprehensive care for individuals with Turner syndrome worldwide.

Turner Syndrome - Causes & Types

Every human being has an intricate blueprint within their chromosomes. Each person has 23 pairs of chromosomes, totalling 46, of which 22 are autosomes, and one pair is a sex chromosome, determining the person’s biological sex. You inherit one chromosome from each parent, making those pairs unique.

The 23rd pair is particularly important: males have one X and one Y chromosome, while females possess two X chromosomes. When this delicate balance is disrupted, Turner Syndrome occurs. It occurs when a female baby is missing or has an incomplete X chromosome.

Research is still unravelling the mysteries of Turner syndrome, which manifests in various forms, each with its own story:

Monosomy X

This is the most common type of Turner Syndrome, which means each cell contains only a single X chromosome instead of the usual pair. The chromosomal anomaly occurs during the formation of reproductive cells in the biological parent.

Mosaic Turner Syndrome

In this variation, some cells in the female child have the typical pair of X chromosomes, while others have only one. This mosaic pattern arises spontaneously during the early stages of cell division in pregnancy.

Inherited Turner Syndrome

Sometimes, Turner syndrome can be passed down from parent to child. This inherited form typically involves a missing segment of the X chromosome, showcasing how genetics can weave through generations in unexpected ways.

Turner Syndrome - Symptoms & Common Characteristics

Turner syndrome is a condition that can be identified at various stages of life- sometimes even before birth. The diagnosis might come shortly after birth or in early childhood. Sometimes, it may be diagnosed during adolescence in those with milder symptoms.
Turner Syndrome manifests as certain physical traits, such as:
  • Short stature
  • Low hairline
  • Flat feet
  • Droopy eyelids
  • Low-set ears
  • Broad chest size
  • Narrow finger and toenails
  • Smaller and receding low-jaw
  • Tiny coloured spots on the skin
  • Missing knuckle on a particular digit
Apart from these apparent characteristics, they may also exhibit the following changes in sexual development:
Infertility issues
Low estrogen levels
Lack of breast development without hormone therapy
Absence of menstrual periods or Amenorrhea
Primary Ovarian Insufficiency (POI), or smaller-than-normal ovaries that cease functioning after a few years.
Generally do not undergo puberty without hormone therapy during late childhood or early adolescence.

Other Health Risks of Turner Syndrome

Turner Syndrome heightens the likelihood of developing additional health issues, although not everyone with the condition will experience these risks. The health risks include:

Cardiovascular Issues

Life-threatening problems related to the heart and blood vessels, such as congenital conditions that impact the structure of the heart.

Autoimmune Conditions

Increased risk of Celiac disease, Hashimoto’s thyroid disease, and Inflammatory Bowel Disease or IBD.

Bone Issues

Increased risk of osteoporosis and fractures are prevalent among TS patients who haven’t received estrogen hormone therapy.

Hearing & Vision Problems

Recurring infections in the middle ear may lead to Mastoiditis and/or the formation of Cholesteatoma or benign skin cysts on the mastoid bone. Eye conditions include lazy eyes, droopy eyelids, and refractive errors.

Other Associated Conditions

Structural issues in the kidney, ureter, bladder, and other associated organs, increased risk for lymphedema, learning disabilities, and metabolic syndrome.

Diagnostic Tests for Turner Syndrome

Although doctors diagnose Turner Syndrome at any developmental stage, they may often recommend the following tests to diagnose the condition before birth:

Noninvasive Prenatal Testing (NIPT)

This blood test for pregnant ladies checks for signs indicating a higher risk of chromosomal issues in the foetus.

Ultrasound Scan

Ultrasound scans check if the foetus exhibits certain physical traits associated with Turner Syndrome, such as heart abnormalities or fluid accumulation around the neck.

Amniocentesis & Chorionic Villus Sampling

These genetic tests, involving karyotype analysis of fluid or tissue, can confirm the presence of Turner Syndrome in a foetus. Karyotype analysis is also recommended after birth since it is the definitive test for confirming Turner Syndrome.

Turner Syndrome - Medical Care & Management

Although Turner Syndrome has no cure, it can be managed through medication and consistent therapies. There is no one-size-fits-all approach to managing the condition, and treatment is primarily based on the child’s specific symptoms and development in each stage.

A coordinated care team is vital in delivering comprehensive and effective treatment for individuals with Turner Syndrome. While it’s essential to address related medical issues, such as heart conditions, the focus of treatment often emphasises hormonal therapies to manage various aspects of the syndrome and ensure optimal health outcomes for patients.

The treatments include:

Human Growth Hormone Therapy

Growth hormone injections to support vertical growth. These injections can enhance the child’s final height when administered in the early developmental stages.

Estrogen Therapy

Estrogen replacement therapy promotes breast and brain development, regulates menstruation, and improves liver and bone health.

Cyclic Progestins

Doctors recommend cyclic progestins to help establish regular menstruation.

Girl children with TS may also require continuous monitoring and medical check-ups to stay on top of other medical concerns.

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