Nursing Guide to Turner Syndrome: Nursing Diagnosis, Interventions, & Care Plans

Turner syndrome (TS) is a genetic disorder that affects females, characterized by the complete or partial absence of one X chromosome (45,X karyotype). It affects about 1 in 2,500 live female births. Individuals with Turner syndrome often have distinctive physical features, short stature, and may experience ovarian failure leading to infertility.  

Other associated health issues include cardiovascular anomalies, hearing problems, renal abnormalities, and learning difficulties. Early diagnosis and multidisciplinary care can help manage the complications of Turner syndrome, allowing individuals to lead relatively healthy lives. 

Etiology and epidemiology 

Turner syndrome occurs due to the complete or partial loss of one X chromosome, which is a random event during cell division. Most cases are not inherited, meaning the chromosomal abnormality happens spontaneously during fetal development. 

Types of chromosomal abnormalities in Turner syndrome: 

• Monosomy X: The complete absence of one X chromosome in all cells (45,X) is the most common form. 
• Mosaicism: Some cells have the normal number of chromosomes (46,XX), while others have a missing or altered X chromosome (45,X). 
• Partial deletion: Only part of one X chromosome is missing. 

Risk factors: 

Turner syndrome is not related to maternal age, unlike some other chromosomal abnormalities like Down syndrome. There are no known environmental risk factors for the condition. 

Epidemiology: 

Turner syndrome is estimated to affect 1 in 2,000 to 1 in 2,500 live female births. Many fetuses with Turner syndrome are miscarried or stillborn, making the condition more common in miscarriages than in live births. 

ICD-10 code 

The ICD-10 code for Turner syndrome is Q96.9 – Turner syndrome, unspecified. 

Diagnosis 

Turner syndrome is often suspected in girls with certain physical features or short stature. Diagnosis is confirmed through genetic testing. 

1. Karyotype analysis: This test identifies chromosomal abnormalities by analyzing the patient’s chromosomes. In Turner syndrome, it typically reveals a missing or altered X chromosome. 
2. Prenatal diagnosis: Turner syndrome may be diagnosed before birth via chorionic villus sampling (CVS) or amniocentesis, especially if there are abnormal findings on prenatal ultrasound, such as cystic hygroma or heart defects. 
3. Hormonal testing: Low levels of estrogen and high levels of follicle-stimulating hormone (FSH) can suggest ovarian failure, which is common in Turner syndrome. 
4. Imaging studies: Echocardiograms and renal ultrasounds are often performed to detect common Turner syndrome-related abnormalities like congenital heart disease (e.g., coarctation of the aorta) and kidney malformations. 

Management 

There is no cure for Turner syndrome, but early intervention and treatment can help manage the various health challenges associated with the condition. A multidisciplinary approach involving endocrinologists, cardiologists, and other specialists is essential for optimal care. 

Hormone therapy: 

1. Growth hormone therapy: Most girls with Turner syndrome have short stature. Growth hormone (GH) therapy is usually initiated in early childhood to increase height. Early and consistent GH treatment can significantly improve adult height. 
2. Estrogen replacement therapy: Since many individuals with Turner syndrome have ovarian insufficiency or failure, estrogen replacement is typically started at the time of puberty to induce the development of secondary sexual characteristics. This also helps prevent osteoporosis. 

Cardiovascular care: 

Congenital heart defects, such as coarctation of the aorta and bicuspid aortic valve, are common in Turner syndrome. Regular cardiac evaluations, including echocardiograms, are critical. Blood pressure should be closely monitored, as hypertension is more common in individuals with Turner syndrome. 

Fertility options: 

Women with Turner syndrome typically have ovarian failure, making natural conception difficult. However, assisted reproductive technologies (ART), such as in vitro fertilization (IVF) using donor eggs, can enable many women with Turner syndrome to become pregnant. 

Psychological and educational support: 

• Counseling and support groups: Emotional and social challenges are common, and psychological counseling may help individuals cope with body image, self-esteem, and infertility issues. 
• Educational support: Many individuals with Turner syndrome have normal intelligence, though they may experience learning difficulties, particularly in math and spatial reasoning. Early intervention and special education resources can support academic success. 

Turner Syndrome nursing care plan 

Nursing considerations 

Nursing care for patients with Turner syndrome should focus on monitoring growth, managing hormone therapy, preventing complications from associated conditions (such as cardiac or renal issues), and providing psychosocial support. 

Assessment 

• Growth and development: Measure height, weight, and pubertal development regularly, tracking the patient’s growth curve. Monitor for delays in physical and sexual development.
• Cardiac health: Assess for signs of cardiovascular problems, such as chest pain, shortness of breath, or high blood pressure. Ensure regular follow-up with a cardiologist.
• Kidney function: Monitor for signs of renal anomalies, such as recurrent urinary tract infections (UTIs) or abnormal renal function tests.
• Hearing assessment: Regularly evaluate hearing, as individuals with Turner syndrome are at increased risk for hearing loss.
• Psychosocial status: Assess the patient’s emotional well-being, body image concerns, and any difficulties related to learning or social interactions. 

Nursing diagnosis/risk for 

• Impaired growth and development related to short stature and delayed puberty.
• Risk for impaired cardiovascular function related to congenital heart defects or hypertension.
• Disturbed body image related to physical differences and delayed puberty.
• Impaired social interaction related to learning difficulties or social stigma. 

Interventions 

• Growth hormone administration: Administer growth hormone therapy as prescribed and monitor for side effects. Provide education to the patient and caregivers on the importance of adherence to therapy.
• Hormone replacement therapy: Educate patients and families about estrogen therapy to promote secondary sexual characteristics and bone health. Monitor for compliance and manage side effects, such as mood changes or skin reactions.
• Cardiac monitoring: Encourage regular cardiovascular screenings, including echocardiograms and blood pressure checks, to detect early signs of heart disease. Collaborate with cardiologists for long-term monitoring.
• Psychosocial support: Provide emotional support and counseling referrals to help individuals and families cope with the emotional and social impacts of Turner syndrome. Encourage participation in support groups.
• Educational support: Work with school systems to ensure that the patient has access to appropriate educational resources. Encourage early intervention for learning disabilities, especially in math and spatial reasoning. 

Expected outcomes 

• The patient will demonstrate appropriate growth and development with the use of growth hormone therapy.
• The patient will maintain stable cardiovascular and renal function through regular monitoring and appropriate interventions.
• The patient will develop healthy self-esteem and body image with support from psychological counseling and social engagement.
• The patient will achieve academic success with the help of educational interventions and individualized learning plans. 

Individual/caregiver education 

• Growth hormone therapy: Educate the patient and caregivers on the importance of growth hormone injections, the expected outcomes, and potential side effects.
• Cardiovascular health: Teach the family about the need for regular cardiac checkups, recognizing early signs of heart issues, and maintaining healthy blood pressure.
• Hormone replacement therapy: Explain the benefits of estrogen therapy in promoting secondary sexual characteristics and preventing osteoporosis. Discuss when to expect the initiation of therapy and possible side effects.
• Fertility options: Discuss reproductive options early in adolescence to prepare the patient for potential fertility treatments, such as egg donation or assisted reproductive technologies, if desired in adulthood.
• Psychological well-being: Encourage discussions about body image, self-esteem, and coping strategies for dealing with differences or infertility. Offer information about support groups and counseling services. 

References 

1. Turner Syndrome Society: Turner Syndrome Information
2. Mayo Clinic: Turner Syndrome Overview
3. National Institutes of Health: Turner Syndrome Information
4. ICD-10 Data: Q96.9 Turner Syndrome, Unspecified
5. Turner Syndrome - StatPearls - NCBI Bookshelf 

  Resources 

• Turner Syndrome Society of the United States: Provides resources, education, and support for individuals with Turner syndrome and their families.
• National Institutes of Health (NIH): Offers information on Turner syndrome research and treatment options.
• Genetics Home Reference: A reliable source for understanding the genetic aspects of Turner syndrome and associated health issues.
• Turner Syndrome Global Alliance: A global community that provides resources, events, and support for those affected by Turner syndrome.