Turner Syndrome: Causes, Symptoms, and Management

Turner Syndrome is a genetic disorder affecting females, characterised by the partial or complete absence of one X chromosome. It manifests in various physical and developmental challenges, including short stature and infertility. 

This blog delves into the intricacies of Turner Syndrome, exploring its causes, symptoms, and treatments, which can help you navigate life with this condition.

What is Turner Syndrome?

Turner syndrome (TS) is a congenital condition that exclusively affects individuals assigned to female at birth (AFAB). It occurs when one of the two X chromosomes is either partially or completely missing.

This syndrome manifests in various features and symptoms, which vary from person to person. However, the most common characteristics are short stature and decreased ovarian function (primary ovarian insufficiency).

What are the Stages of Turner Syndrome?

Turner Syndrome (TS) manifests differently across life stages, which are:

Prenatal Stage

• Detected via prenatal tests (amniocentesis, CVS)
• Ultrasound may show cystic hygroma, oedema
• Possible heart defects

Infancy

• Physical features: swollen hands/feet, webbed neck, broad chest
• Lower birth weight and length

Childhood

• Short stature, delayed growth
• Frequent ear infections, learning difficulties

Adolescence

• Delayed puberty, requiring hormone replacement therapy
• Continued short stature

Adulthood

• Infertility, potential use of assisted reproductive technologies
• Increased risk of chronic conditions (hypertension, diabetes, osteoporosis)
• Emotional challenges, potential need for psychological support

Early diagnosis and multidisciplinary care are crucial for managing TS effectively.

Also read this: Carpal tunnel syndrome – Symptoms, Causes, Diagnosis 

What are the Types of Turner Syndrome?

Turner syndrome (TS) has different types based on the effect on one of the X chromosomes:

Monosomy X

• Instead of two X chromosomes per cell, there is just one.
• About 45% of people with TS have monosomy X.
• The chromosomal abnormality occurs randomly during the formation of reproductive cells in the biological parent.
• If an atypical reproductive cell contributes to a foetus’s genetic makeup, the baby will have a single X chromosome in each cell at birth.

Mosaic Turner Syndrome

• Accounts for about 30% of TS cases.
• Some cells have a pair of X chromosomes, while others have only one.
• Occurs at random in the early stages of pregnancy during cell division.

Inherited Turner Syndrome

• Rarely, TS is inherited when the biological parent has TS and passes it on.
• This usually results from a missing part of the X chromosome.

What are the Symptoms of Turner Syndrome?

Turner syndrome (TS) presents with a variety of characteristics and health conditions, which vary in severity. Depending on the type, signs of TS may appear:

• Before birth
• Shortly after birth
• In early childhood
• In early adolescence
• In adulthood

The common features of Turner Syndrome are:

Short Stature

• Apparent by age 5
• Delayed puberty and lack of growth spurts
• Average adult height: 4’8” (growth hormone therapy can increase height to 5’1”)

Differences in Sexual Development

• Lack of puberty without hormone therapy
• Possible lack of breast development
• Amenorrhea (no menstrual periods)
• Smaller-than-expected ovaries (primary ovarian insufficiency)
• Low levels of sex hormones (oestrogen)
• Infertility

Physical Traits

• Ear differences (low-set, elongated, cup-shaped, thick lobes)
• Low hairline at the neck
• Small, receding lower jaw
• Short, wide or webbed neck
• Broad chest
• Cubitus valgus (arms point out at elbows)
• Missing knuckle in a digit (shorter finger/toe)
• Flat feet (pes planus)
• Narrow fingernails and toenails
• Multiple tiny coloured spots (pigmented nevi)

The health conditions associated with TS are:

Cardiovascular Conditions

• Bicuspid aortic valve
• Coarctation of the aorta
• Elongation of the aortic arch
• High blood pressure

Bone Conditions

• Increased risk of osteoporosis and fractures
• Scoliosis (10% of people with TS)

Autoimmune Conditions

• Celiac disease
• Hashimoto’s thyroid disease
• Inflammatory bowel disease (IBD)

Hearing and Vision Issues

• Frequent middle ear infections (ages 1-6)
• Sensorineural hearing loss (50% of adults)
• Refractive errors, strabismus, amblyopia, ptosis
• Less common: red-green colour blindness, blue sclera

Other Conditions

• Kidney conditions: Structural problems, UTIs
• Metabolic syndrome: Increased risk of cardiovascular disease, Type 2 diabetes, stroke
• Lymphedema: Swollen, puffy hands and feet
• Learning disabilities: Visual-motor and visual-spatial skill issues
• Mental health challenges: Self-esteem, chronic stress, anxiety, depression

For personalised information, consult a healthcare provider regarding specific symptoms and features based on unique genetic makeup.

What are the Causes of Turner Syndrome?

Most humans possess 23 pairs of chromosomes, totalling 46. These chromosomes segregate into 22 pairs labelled numerically (autosomes) and one pair determining sex. Each individual inherits one chromosome from each biological parent, forming a pair.

The 23rd pair typically comprises one X and one Y chromosome for individuals identified as male at birth (AMAB), while those identified as female at birth (AFAB) have two X chromosomes. Turner syndrome occurs when one of the two X chromosomes in a baby is absent or defective. The exact cause of this occurrence remains unknown to researchers.

What are the complications of Turner Syndrome?

People with Turner syndrome face a higher risk of specific medical issues, but with proper monitoring and checkups, most conditions can be effectively managed. Here are some common complications:

• Kidney Abnormalities: Often present in Turner syndrome, irregularly formed kidneys or ones in incorrect positions can lead to recurrent urinary tract infections (UTIs).
• High Blood Pressure: Kidney abnormalities can cause hypertension.
• Hypothyroidism: Some individuals may experience low thyroid hormone levels due to thyroid gland inflammation.
• Celiac Disease: Those with Turner syndrome have an elevated risk of developing this condition, characterised by gluten intolerance.
• Heart Abnormalities: Monitoring for aortic issues and hypertension is crucial.
• Lymphedema: Swelling in the hands and feet may occur due to fluid retention.

How is Turner Syndrome Diagnosed?

Healthcare professionals can diagnose Turner syndrome during any phase of a child’s growth after birth. Additionally, on occasion, they can identify the condition before birth through the utilisation of these tests:

Noninvasive Prenatal Testing (NIPT)

• Screening blood tests for pregnant individuals.
• Detects signs indicating increased risk of foetal chromosomal issues.
• Not universally administered during pregnancy.

Ultrasound During Pregnancy

• Identifies physical traits associated with Turner syndrome (TS), like cardiac abnormalities or neck fluid.
• Often followed by amniocentesis or chorionic villus sampling for definitive diagnosis.

Amniocentesis and Chorionic Villus Sampling

• Analyses amniotic fluid or placental tissue.
• Genetic testing with karyotype analysis confirms Turner syndrome diagnosis.

What is the Treatment for Turner Syndrome?

There’s no cure for Turner syndrome, but certain medications and therapies can help manage its symptoms. Treatment often focuses on hormones and related medical issues.

Human Growth Hormone Therapy

• Injections help with vertical growth.
• If started early, can increase final height by several inches.

Oestrogen Therapy

• Addresses low levels of oestrogen, crucial for sexual development.
• Aids in breast development, menstruation, brain development, heart function, liver function, and bone health.

Cyclic Progestins

• Induce regular menstrual periods.
• Typically started around age 11 or 12.

Conclusion

Turner Syndrome poses unique challenges for individuals, necessitating comprehensive medical care and supportive interventions. By raising awareness and fostering understanding, we can empower those affected to lead fulfilling lives. It is always advisable to seek medical help from a paediatrician. Timely care and help can ensure an appropriate diagnosis and treatment of your condition. 

At the CK Birla Hospital, we ensure patients get holistic medical support which includes treatment in a compassionate environment. This patient-centric approach not only helps patients heal better but also ensures they are aware of the preventive measures as well. In case you need to consult a paediatrician, reach out to us, or book a direct appointment with endocrinologist at the CK Birla Hospital. 

FAQs about Turner Syndrome

Can Turner Syndrome be Cured?

Turner syndrome can’t be cured, but treatments manage symptoms and address associated health concerns. Hormone therapy aids growth and development, while assisted reproductive techniques may help with fertility challenges.

What are the Long-Term Health Risks Associated with Turner Syndrome?

Long-term risks of Turner syndrome include heart problems, osteoporosis, diabetes, thyroid issues, and infertility. Regular monitoring and medical care help manage these risks and maintain overall health.

Can Individuals with Turner Syndrome have Children?

Individuals with Turner syndrome typically have reduced fertility but can sometimes conceive with assisted reproductive techniques such as egg donation or in vitro fertilization (IVF) using donated eggs.

Can Turner Syndrome affect Intelligence or Cognitive Abilities?

Turner syndrome can variably impact intelligence and cognitive abilities. While some individuals may experience learning disabilities or social challenges, many lead fulfilling lives with appropriate support and educational interventions.

How Common is Turner Syndrome?

Turner syndrome occurs in about 1 in 2,000 to 2,500 live female births. It is one of the most common chromosomal disorders, caused by partial or complete absence of the second sex chromosome.