Understanding Turner Syndrome: Causes, Symptoms and Diagnosis 

Turner syndrome occurs in females due to the complete or partial absence of one X chromosome. According to the the Journal of Clinical Endocrinology and Metabolism, it occurs in approximately 1 in 2,500 female births worldwide. Though the condition varies in severity, early diagnosis of Turner syndrome and treatment can help manage its effects and improve quality of life. 

What is Turner Syndrome?

Turner Syndrome (TS) is a genetic abnormality affecting females, characterized by the complete or partial absence of one of the X chromosomes. This chromosomal disorder can lead to a variety of developmental and medical challenges, including short stature, infertility, and heart defects. While Turner syndrome is not inherited, it results from random errors in cell division during early fetal development. 

What Causes Turner Syndrome? 

Turner Syndrome causes do not include environmental factors or inherited from parents. It results from chromosomal changes during conception or early fetal development. The four primary genetic variations include: 

1. Monosomy X (45, X): The complete absence of one X chromosome in all cells.
2. Mosaic Turner Syndrome (45, X/46, XX): Some cells contain the typical two X chromosomes, whereas others have just one.
3. Partial Deletion of the X Chromosome: A portion of one X chromosome is missing, affecting specific gene functions.
4. Ring Chromosome: The X chromosome forms a circular structure due to genetic deletions, leading to abnormalities in gene expression.

What are the Symptoms of Turner Syndrome? 

Symptoms of Turner syndrome depend on the severity of the chromosomal abnormality.  

Physical Symptoms:

• Short stature, typically becoming evident by early childhood. 

• Webbed neck, with extra folds of skin extending from the neck to the shoulders. 

• Low-set ears and low hairline at the back of the head. 

• Swelling (lymphedema) of the hands and feet at birth. 

• Broad chest with widely spaced nipples. 

• Skeletal abnormalities, such as scoliosis or flat feet. 

Medical Complications:

• Congenital cardiac conditions, including a bicuspid aortic valve or aortic coarctation. 

• Kidney abnormalities may increase the risk of urinary tract infections. 

• Ovarian insufficiency or failure, leading to delayed puberty or infertility. 

• Hearing loss, which may worsen with age. 

• Vision problems, such as strabismus or near-sightedness. 

• Increased risk of autoimmune disorders, including hypothyroidism and celiac disease. 

• Osteoporosis, due to low estrogen levels, affects bone density. 

Cognitive and Social Challenges:

• Normal intelligence but possible difficulties with math, spatial reasoning, and memory. 

• Challenges with social skills, particularly in nonverbal communication. 

How is Turner Syndrome Diagnosed? 

Turner Syndrome can be identified at various stages of life, from prenatal screening to adulthood. 

Prenatal Diagnosis:

1. Non-invasive Prenatal Testing (NIPT): It tests maternal blood and analyses fetal DNA for chromosomal abnormalities, including missing or altered X chromosomes. 

2. Ultrasound Findings: Certain prenatal ultrasound markers may suggest Turner Syndrome, such as excess fluid accumulation at the back of the foetal neck (nuchal translucency) or heart defects.

3. Amniocentesis or Chorionic Villus Sampling (CVS): They include invasive techniques that analyse foetal cells for chromosomal abnormalities. However, these procedures come with a slight risk of miscarriage.

Postnatal and Childhood Diagnosis: 

1. Physical Examination: Doctors assess characteristics such as short stature, webbed neck, lymphedema (swelling of hands and feet), low-set ears, and widely spaced nipples.

2. Karyotype Analysis: A specialized blood test that examines the individual’s chromosomes, confirming the presence of a missing or structurally altered X chromosome. This test provides a definitive diagnosis of Turner syndrome.

3. Hormone Level Tests: Blood tests assess hormone levels, particularly estrogen and other reproductive hormones, to evaluate ovarian function and identify puberty-related hormone deficiencies.

4. Echocardiogram and Kidney Ultrasound: Since Turner Syndrome can be associated with kidney abnormalities and congenital heart defects, imaging tests are performed to detect structural concerns.

5. Bone Age X-ray: A hand and wrist X-ray may be conducted to evaluate bone development and predict potential growth delays.

6. Hearing and Vision Tests: Regular screenings help detect common issues such as hearing loss and vision problems, which may develop over time.

How to Manage Turner Syndrome?

Since Turner Syndrome is a genetic condition, it cannot be prevented. A healthcare provider can develop an individualized care plan, focusing on the following aspects:

 1. Regular health monitoring for heart, kidney, and bone health. 

 2. Educational support to assist with learning and cognitive challenges. 

 3. Social skills development to help navigate interpersonal interactions. 

 4. Hearing and vision assessments to detect and manage any sensory difficulties. 

Early diagnosis and appropriate medical care can significantly improve the quality of life for individuals with Turner syndrome. While the condition presents various challenges, targeted treatments, regular health monitoring, and supportive therapies can help manage its effects. To detect abnormalities early, consult a doctor and book a karyotype analysis with Dr. Lal PathLabs for accurate diagnosis and timely intervention. 

FAQs

1. What is the cause of Turner Syndrome?

Turner syndrome causes developmental differences due to one X chromosomes complete or partial deletion, resulting from random genetic errors. 

2. How to diagnose Turner Syndrome?

Early diagnosis of Turner syndrome involves prenatal screening (NIPT, amniocentesis), physical examination, karyotype analysis, and imaging tests for structural abnormalities.