Turner Syndrome (TS) is a genetic disorder that affects approximately 1 in 2,500 live-born females worldwide. It is also one of the most common genetic causes of miscarriages—with nearly 95% of Monosomy X conceptions lost during pregnancy. Only a small fraction of affected fetuses survive to term.
First described by Dr. Henry Turner, this chromosomal condition occurs when one X chromosome is missing, partially missing, or structurally altered. The clinical features of Turner Syndrome vary widely, ranging from mild to severe, depending on the type of chromosomal abnormality.
Symptoms of Turner Syndrome
The signs and symptoms of Turner Syndrome differ across individuals but commonly include:
Short stature (often below average for age)
Gonadal dysgenesis / premature ovarian failure (leading to infertility)
Delayed or absent puberty due to underdeveloped secondary sexual characteristics
Learning difficulties (often mild, not affecting intelligence)
Distinctive physical features:
Short or webbed neck
Low-set ears
Low hairline at the back of the head
Narrow fingernails or toenails that curve upward
Lymphedema (swelling of hands and feet in infants)
Congenital heart defects (such as coarctation of the aorta or bicuspid aortic valve)
Skin pigmentation spots (moles or café-au-lait spots)
Causes of Turner Syndrome
Turner Syndrome occurs when an individual is missing all or part of one X chromosome. This can happen in different ways:
Monosomy X: Complete absence of one X chromosome.
Mosaicism: Some cells have two X chromosomes, while others are missing one X.
Ring Chromosome X: The ends of the X chromosome break and rejoin in a ring shape.
Isochromosome X: One arm of the chromosome is missing and replaced by a duplicate of the other arm.
The loss of the SHOX gene on the X chromosome is thought to contribute to short stature in Turner Syndrome.
Diagnosis of Turner Syndrome
Turner Syndrome can be detected:
Prenatally: During prenatal testing (via karyotyping or chromosomal microarray) if there are suggestive findings on ultrasound.
At birth or childhood: Based on physical features, delayed growth, or heart abnormalities.
In adolescence/adulthood: If puberty is delayed or infertility is suspected.
Diagnostic Tests for Turner Syndrome:
Karyotyping (Chromosomal Analysis): Standard test to confirm missing or altered X chromosome.
FISH (Fluorescent In Situ Hybridization): Detects mosaicism or small chromosomal abnormalities.
Prenatal genetic testing: Can be performed in high-risk pregnancies.
At LABASSURE, we provide advanced cytogenetic and molecular testing for accurate and early diagnosis of Turner Syndrome.
Treatment & Management of Turner Syndrome
Although there is no permanent cure, several therapies can help improve growth, development, and quality of life:
Growth hormone therapy: Stimulates height growth in childhood.
Estrogen/progesterone replacement therapy: Initiates puberty and maintains secondary sexual characteristics.
Cardiac monitoring: Regular check-ups to manage congenital heart disease.
Surgical removal of non-functioning ovaries (in cases with Y chromosome material) to prevent gonadal tumors.
Supportive therapies: Speech therapy, psychological counseling, and fertility counseling when required.
With appropriate care, women with Turner Syndrome can lead healthy, productive lives.
Prognosis
Life expectancy: Slightly reduced in some cases due to heart complications.
Cognitive ability: Most individuals have normal intelligence.
Fertility: Many affected women are infertile but can consider assisted reproductive techniques.
Quality of life: With medical care, counseling, and social support, most individuals live normal, fulfilling lives.
Key Takeaway
Turner Syndrome is a manageable condition with proper diagnosis and treatment.
Early detection through genetic testing helps in planning care and preventing complications.
With growth therapy, hormonal treatment, and medical monitoring, women with Turner Syndrome can achieve normal development and good health outcomes.
At LABASSURE, we are committed to providing accurate diagnosis, advanced genetic testing, and counseling for families dealing with Turner Syndrome.
📧 For more information on Turner Syndrome testing and management in India, write to us at info@labassure.com
