eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Medical Topics
Turner Syndrome: Treatment & Medication
Updated: Oct 23, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Treatment
Medical Care
- Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions.
- Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential.
- In childhood, growth hormone therapy is standard to prevent short stature as an adult.10,11,12 Estrogen replacement therapy is usually required, but starting too early can compromise adult height. Estrogen is usually started at age 12-15 years.
Surgical Care
- Patients are suspected of having a high risk of keloid formation. This must be taken into consideration if cosmetic surgery is contemplated because keloids may negate any gain from such procedures.
- Subacute bacterial endocarditis (SBE) prophylaxis is required prior to any dental or surgical procedure in women with cardiac valve disease to prevent SBE.
Consultations
- Endocrinologist
- During childhood and adolescence, patients should visit a pediatric endocrinologist at regular intervals.
- Attention should be paid to growth and development, thyroid status, and osteoporosis prevention with growth hormone, estrogens, and progestins.
- Patients on growth hormone should be seen every 3-4 months.
- Cardiologist
- A cardiologist should evaluate all patients at diagnosis.
- Patients found to have significant anomalies should have long-term follow-up care and possibly SBE prophylaxis.
- Because of the risks of aortic root dilatation and mortality due to aortic dissection, cardiac evaluation (including echocardiography) may be worthwhile every 5 years, even in patients with normal findings on initial cardiovascular examination.
- Patients contemplating pregnancy should have a complete cardiovascular evaluation prior to attempting assisted reproduction or conception.
- Patients with a bicuspid aortic valve, coarctation of the aorta, or dilation of the aorta have a higher risk of dissecting aortic aneurysm or rupture.
- Nephrologist or urologist
- Almost a third of patients have renal anomalies that may require evaluation and follow-up care by a nephrologist. At a minimum, such patients should have a yearly urine culture and an annual measurement of BUN and creatinine levels.
- Girls with horseshoe kidneys have an increased risk of Wilms tumor. Patients with horseshoe kidneys should have renal ultrasound examinations every 4-6 months until the age 8 years and every 6-12 months thereafter.
- Psychologist
- Overall psychological health is good, but specific perceptual weaknesses or learning disabilities may be present. Assessment of intelligence, learning ability, motor skills, and social maturity should be made prior to enrollment in kindergarten.
- As with any chronic illness, attention should be paid to fostering healthy socialization and to appropriate career and vocational planning.
- Genetics
- Turner syndrome is not an inherited disorder, and the recurrence risk is low.
- Because of infertility, the syndrome is rarely passed to offspring.
- Consultation is helpful when the condition is diagnosed in utero or when Turner syndrome is suspected in the setting of a normal peripheral blood karyotype.
- Patients should be tested for the presence of Y-chromosomal material using a Y-centromeric probe.
Diet
- Dietary requirements are similar to other children or adults.
- Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU).
- Patients should avoid obesity because it increases already high risks of hypertension and insulin resistance.
- Patients with short stature require fewer calories than those of normal height.
Activity
- Physical activity should be encouraged as prevention for obesity and osteoporosis.
Medication
Human growth hormone
These agents are the primary treatment for short stature. They stimulate growth of linear bone, skeletal muscle, and organs.
Somatotropin (Nutropin, Genotropin, Humatrope, Norditropin, Saizen, Tev-Tropin)
Taller adult heights are associated with earlier treatment and with the duration of treatment prior to induced or spontaneous puberty. With treatment, approximately 50% of patients reach an adult height of 150 cm (59") or more, compared with an untreated mean adult height of 142 cm (56").
Adult
Not recommended at present for adults after the epiphyses have closed
Pediatric
Varies with specific product: 0.05 mg/kg/d (as somatropin [Saizen]) SC is one example; individualize according to growth results
Corticosteroids interfere with growth-promoting actions; estrogens can cause epiphyseal fusion, which stops growth; patient must be euthyroid for optimal effects
Documented hypersensitivity; hypersensitivity to benzyl alcohol, cresol, or other preservatives used in preparation of liquid injectable; fused (closed) epiphyses; active neoplasia; neonates
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Caution in diabetes mellitus; reconstitute with sterile water for injection if administering to newborns (avoids benzyl alcohol); monitor bone age, thyroid function, and blood glucose; intracranial hypertension
Anabolic steroids
This is an adjuvant for growth hormone therapy.
Oxandrolone (Oxandrin, Anavar)
Of limited use. Some endocrinologists recommend use in patients diagnosed in their teens to achieve a maximum adult height quickly. When used, often combined with growth hormone to allow a lower dose, thus decreasing the potential for adverse effects.
Adult
Not recommended
Pediatric
<8 years: Not recommended
>8 years: 0.05 mg/kg/d PO; not to exceed 0.05 mg/kg/d
May worsen glucose tolerance; possible increased sensitivity to PO anticoagulants
Documented hypersensitivity; hypercalcemia
Pregnancy
X - Contraindicated; benefit does not outweigh risk
Precautions
Caution in heart failure, CAD, edema, hypertension, psychiatric disorders, substance abuse, or liver dysfunction; monitor bone growth and blood glucose
Thyroid replacement therapies
These agents are used for treatment of hypothyroidism.
Levothyroxine (Synthroid, Levoxyl, Levothroid, L-thyroxine)
Hypothyroidism is common with Turner syndrome and is treated like any other hypothyroidism. Thyroid hormones influence growth and maturation of tissues. Involved in normal growth, metabolism, and development.
Adult
0.1-0.125 mg/d PO
Pediatric
Approximately 3 mcg/kg/d PO
Young children and infants require higher doses per kg; consult package insert or a pediatric endocrinologist; dose should be adjusted to avoid elevated TSH levels and elevated (free) T4 levels
Growth hormone ineffective unless euthyroid; cholestyramine may decrease absorption, as may a high-fiber or high-soy diet (such diets may require an increase in dose but are not contraindicated)
Documented hypersensitivity; uncorrected adrenal insufficiency
Pregnancy
A - Fetal risk not revealed in controlled studies in humans
Precautions
Not for use as treatment in patients with obesity and euthyroidism; overtreatment may worsen osteoporosis; caution in cardiovascular disease; monitor thyroid function periodically
Estrogen replacement therapies
Almost all individuals require estrogen replacement. Estrogen is usually started at chronologic age 12 years or older. Adults usually require cyclic therapy with both estrogen and progestin. Transdermal or parenteral estrogen may be useful in limiting some adverse effects of estrogen therapy.
Estrogens
Available in many forms (eg, estradiol [Estrace], conjugated estrogens [Premarin]). Restore estrogen levels to concentrations that induce negative feedback at gonadotrophic regulatory centers, which, in turn, reduces release of gonadotropins from pituitary. Increases synthesis of DNA, RNA, and many proteins in target tissues.
Adult
35-50 mcg/d PO
Pediatric
Estrogen should begin at lowest possible dose and not earlier than age 12 years.
Some endocrinologists start with a low daily dose of ethinyl estradiol 10 mcg/d or less PO, and cycle therapy after several mo of treatment; low-dose transdermal or parenteral treatment may be preferable and is being investigated
May reduce hypoprothrombinemic effect of anticoagulants; possible reduced estrogen levels with coadministration of barbiturates, rifampin, and other agents that induce hepatic microsomal enzymes; possible increase in pharmacologic and toxicologic effects of corticosteroids, via inactivation of hepatic P450 enzyme; possible loss of seizure control when administered concurrently with hydantoins
Documented hypersensitivity; breast cancer; undiagnosed abnormal genital bleeding; active thrombophlebitis or thromboembolic disorders; history of thrombophlebitis, thrombosis, or thromboembolic disorders associated with previous estrogen use (except when used in treatment of breast malignancy); Premarin may be rejected by some patients as an animal-rights issue
Pregnancy
X - Contraindicated; benefit does not outweigh risk
Precautions
May cause some degree of fluid retention and require careful observation; possible undesirable manifestations of excessive estrogenic stimulation
Antihypertensive agents
These products are used to control hypertension and to ultimately prevent complications such as aortic dissection. The 2 most common class of medications used for these purposes in pediatric patients are beta-blockers and ACE inhibitors. Propranolol is an example of one of the beta-blockers used in pediatrics, whereas captopril is an example of an ACE inhibitor.
Additional drug recommendations for patients aged 1-17 years may be found in The Fourth Report on the Diagnosis, Evaluation, and Treatment of High Blood Pressure in Children and Adolescents. For neonatal doses, see the eMedicine article Neonatal Hypertension. For pediatric doses, see the eMedicine article Hypertension.
Propranolol (Inderal)
Has membrane-stabilizing activity and decreases automaticity of contractions.
Adult
40-80 mg PO bid initially; increase to 160-320 mg/d (some patients require up to 640 mg/d)
Pediatric
0.5 mg/kg/d PO divided bid/qid; increase gradually q3-7d; dosage range is 2-4 mg/kg/d divided bid
Coadministration with aluminum salts, barbiturates, NSAIDs, penicillins, calcium salts, cholestyramine, and rifampin may decrease propranolol effects; calcium channel blockers, cimetidine, loop diuretics, and MAOIs may increase toxicity of propranolol; toxicity of hydralazine, haloperidol, benzodiazepines, and phenothiazines may increase with propranolol
Documented hypersensitivity; uncompensated congestive heart failure; bradycardia, cardiogenic shock; AV conduction abnormalities (without pacemaker)
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Beta-adrenergic blockade may decrease signs of acute hypoglycemia and hyperthyroidism; abrupt withdrawal may exacerbate symptoms of hyperthyroidism, including thyroid storm; withdraw drug slowly and monitor closely
Captopril (Capoten)
Prevents conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, resulting in lower aldosterone secretion.
Adult
12.5-25 mg PO 2-3 times/d; may increase by 12.5-25 mg/dose at 1- to 2-wk intervals up to 50 mg tid
Pediatric
6.25-12.5 mg/dose PO q12-24h; not to exceed 6 mg/kg/d
NSAIDs may reduce hypotensive effects of captopril; ACE inhibitors may increase digoxin, lithium, and allopurinol levels; rifampin decreases captopril levels; probenecid may increase captopril levels; the hypotensive effects of ACE inhibitors may be enhanced when administered concurrently with diuretics
Documented hypersensitivity; renal impairment
Pregnancy
D - Fetal risk shown in humans; use only if benefits outweigh risk to fetus
Precautions
Caution in renal impairment, valvular stenosis, or severe congestive heart failure
Vitamins and minerals
Osteoporosis is common and is a major cause of morbidity in adults. Treatment is the same as for other adult women with osteoporosis. Monitor diet and ensure an intake of at least 1 g/d of calcium and 400 IU/d of vitamin D. Treatment with growth hormone and estrogen are also important in the prevention of osteoporosis later in life.
Ergocalciferol (Calciferol, Drisdol)
Vitamin D is a micronutrient essential for normal absorption of calcium and phosphorus. Also produced in response to exposure to ultraviolet B light.
Adult
Recommended: 400 IU/d PO
For osteoporosis: 400-1000 IU/d PO or more
Pediatric
400-1000 IU/d PO
Cholestyramine, mineral oil, orlistat, and high-fiber diets may decrease absorption; thiazide diuretics may increase effects of vitamin D
Documented hypersensitivity; hypercalcemia; malabsorption syndrome
Pregnancy
A - Fetal risk not revealed in controlled studies in humans
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Avoid overdosage; efficacy requires adequate intake of calcium; caution in impaired renal function, renal stones, heart disease, or arteriosclerosis
Calcium salts (acetate, carbonate, chloride, gluconate)
Supplemental source of dietary calcium. Calcium carbonate is 40% elemental calcium.
Adult
1-1.5 g/d elemental calcium PO divided bid/qid
Pediatric
Calcium carbonate or other calcium salt: 0.5-1 g/d elemental calcium PO divided bid/qid or 45-65 mg/kg/d PO
May decrease effects of bisphosphonates, tetracyclines, atenolol, salicylates, iron salts, and fluoroquinolones; thiazide diuretics may increase toxicity due to decreased calcium clearance; large intakes of dietary fiber may decrease calcium absorption and levels
Renal calculi; hypercalcemia; hypophosphatemia; renal or cardiac disease; digitalis toxicity
Pregnancy
B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals
Precautions
Hypercalcemia or hypercalcuria may occur when therapeutic amounts are given
More on Turner Syndrome |
| Overview: Turner Syndrome |
| Differential Diagnoses & Workup: Turner Syndrome |
 Treatment & Medication: Turner Syndrome |
| Follow-up: Turner Syndrome |
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Further Reading
Keywords
Turner syndrome, Turner's syndrome, 45,X karyotype, Bonnevie-Ullrich syndrome, gonadal dysgenesis, monosomy X, XO syndrome, short stature, Leri-Weill dyschondrosteosis, coarctation of the aorta, aortic dissection, diabetes mellitus, treatment, diagnosis
