Turner Syndrome Nursing Care Management

Turner syndrome is lifelong surveillance more than acute crisis. The day-to-day issues are short stature, ovarian failure, and the psychosocial weight of developing differently from peers. The issue that can kill is cardiac: coarctation of the aorta and aortic dissection. So you track growth and hormones over years while never letting the cardiovascular workup slide.

What is Turner Syndrome?

Turner syndrome results from the absence of one set of genes from the short arm of one X chromosome. Henry Turner first described it in 1938, and it is one of the most common chromosomal abnormalities. More than 95% of adult women with Turner syndrome have short stature and infertility.

Pathophysiology

The cause is loss of genes from the short arm of one X chromosome. In patients with a 45,X karyotype, about two-thirds are missing the paternal X chromosome. A similar clinical picture appears with a 46,XXiq karyotype and in some mosaic karyotypes. Deletion of the SHOX gene can cause a similar skeletal phenotype, Leri-Weill dyschondrosteosis (LWD).

Statistics and Incidences

Turner syndrome occurs in approximately 1 in 2000 live-born female infants. As many as 15% of spontaneous abortions have a 45,X karyotype, and 99% of conceptions with a 45,X karyotype spontaneously abort. It occurs only in females; Noonan syndrome, sometimes inappropriately called male Turner syndrome, can occur in either sex.

Causes

Diagnosis requires typical phenotypic features plus complete or partial absence of a second sex chromosome. In patients with a single X chromosome, that chromosome is of maternal origin in two-thirds of cases. Many features, including short stature, stem from the lack of a second SHOX gene, which sits on the X chromosome.

Clinical Manifestations

At birth, girls may have swollen hands and feet from lymphedema, and in infants the combination of dysplastic or hypoplastic nails and lymphedema gives the fingers and toes a characteristic sausage-like appearance. Childhood growth is slightly slower; before age 11 years some girls have height and growth rates within the normal range, but heights are typically below the 50th percentile. A high arched palate suggests the diagnosis, and dental crowding or malocclusion is common. Suspect ovarian failure in girls with no breast development by age 12 years or no menses by age 14 years; elevated LH and FSH confirm it. Lymphedema in utero can produce a webbed neck with a low or indistinct hairline, while the chest appears broad with widely spaced nipples (a shield chest), partly from a short sternum. Loose folds of skin, especially in the neck (cutis laxa), reflect resolving lymphedema and are sometimes seen after infancy.

Assessment and Diagnostic Findings

On fetal ultrasonography, suspect Turner syndrome with a nuchal cystic hygroma, horseshoe kidney, left-sided cardiac anomalies, or nonimmune fetal hydrops; it can be diagnosed prenatally by amniocentesis or chorionic villus sampling, and noninvasive prenatal testing of maternal blood screens with high sensitivity and specificity. A standard 30-cell karyotype is required to exclude mosaicism; diagnosis is confirmed by a 45,X cell line or a cell line with deletion of the short arm of the X chromosome (Xp deletion), and patients should be checked for Y chromosomal material with a Y-centromeric probe.

LH and FSH may be elevated in untreated patients younger than 4 years, later suppress to near-normal, then rise to menopausal levels after age 10 years. Because hypothyroidism is common, get thyroid function tests at diagnosis and repeat TSH every 1-2 years or with symptoms. Abnormal glucose metabolism, including overt diabetes mellitus, is more common than in unaffected children; screen with hemoglobin A1c or fasting glucose, not glucose tolerance tests. Get renal ultrasonography at diagnosis, with annual urine cultures and BUN and creatinine for patients whose collecting-system abnormalities predispose to obstruction. Perform echocardiography and/or MRI of the heart and aorta at diagnosis and check 4-limb blood pressures, given the high incidence of coarctation of the aorta. Infants diagnosed at birth need a hearing assessment in the nursery, with formal testing at age 1 year and before school.

Medical Management

Patients need screening for associated chronic diseases plus early preventive care. Growth hormone therapy in childhood is standard to prevent adult short stature; the ideal starting age is not established, but taller adult heights follow the longest treatment durations before puberty. Estrogen replacement is usually required, but starting too early or too high compromises adult height; continuous low-dose estrogen can be cycled 3 weeks on, 1 week off after 6-18 months, with progestin added later, and transdermal estrogen produces physiologic levels and may be preferred if tolerated. Because both short stature and ovarian failure raise osteoporosis risk, ensure adequate daily calcium (1.0-1.5 g) and vitamin D (at least 400 IU).

Pharmacologic Management

Human growth hormone is the primary treatment for short stature, stimulating growth of linear bone, skeletal muscle, and organs, and anabolic steroids may serve as an adjuvant. Thyroid replacement treats hypothyroidism. Almost all patients require estrogen replacement, usually started at chronologic age 12 years or older, with adults needing cyclic estrogen and progestin; transdermal or parenteral estrogen can limit some adverse effects. Antihypertensives control blood pressure and help prevent aortic dissection. Vitamin D supports calcium and phosphorus absorption; treat osteoporosis as in other adult women and ensure at least 1 g/d of calcium and 400 IU/d of vitamin D.

Nursing Management

Nursing Assessment

Patients may present with a cystic hygroma on fetal ultrasound or swollen hands and feet from lymphedema at birth. Children usually present with short stature, though some girls younger than 11 years have heights within the normal range; older adolescents and adults usually present with puberty, fertility, and stature concerns. About 95% of patients have both short stature and signs of ovarian failure on exam.

Nursing Diagnosis

Based on the assessment data, major nursing diagnoses include potential for low self-esteem related to absent secondary sex characteristics relative to same-age peers; ineffective child/adolescent eating dynamics related to dental malocclusion; disturbed body image related to physical differences (webbed neck, shield chest, short stature); and risk for imbalanced nutrition, more than body requirements.

Nursing Care Planning and Goals

The patient will identify feelings about self, demonstrate behaviors that restore positive self-esteem, participate in the treatment regimen, take part in 60 minutes of daily physical activity, and learn to make healthy food choices by naming the food groups.

Nursing Interventions

To improve self-esteem, help the patient identify and express feelings, listen actively to her concerns, help her explore her support system and connect with community resources or Turner syndrome support groups, and involve her in medical decisions about her care. To improve physical health, suggest activities such as walking, bike riding, basketball, or dancing, plan sessions on the food groups and serving sizes, and give positive feedback.

Evaluation

Goals are met when the patient identifies feelings about self, demonstrates behaviors that restore positive self-esteem, participates in the treatment regimen, completes 60 minutes of daily physical activity, and learns to make healthy food choices by naming the food groups.

Documentation Guidelines

Document individual findings including contributing factors, interactions, and specifics of behavior; intake and output; cultural and religious beliefs and expectations; the plan of care; the teaching plan; responses to interventions and teaching; and progress toward desired outcomes.