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Turner syndrome (TS) is a rare genetic disorder that affects one in 2,500 female births internationally. Dental hygienists and dentists are most likely to detect the condition because it manifests clinically in the oral cavity first. Patients with TS present with dental anomalies such as small dental crown widths, enamel imperfecta, crossbites and malocclusion.1 The purpose of this article is to provide a clinical presentation of patients with Turner syndrome and promote early detection, diagnosis and safe dental treatment. Collaborative care with dental and medical professionals is essential to manage the disease, comorbidities and dental defects. TS affects every functioning organ system in the body, and precautions must be taken to minimize the effects of the condition and prevent fatalities. Clinical research suggests that early diagnosis and treatment can improve quality of life for the patient with TS.
Etiology and Manifestations
The etiology of TS is unknown. It may occur as a result of anomalies on the X chromosome.2 In addition to clinical manifestations, several tests can be performed to diagnose TS, including amniocentesis, chorionic villous sampling and karyotyping.3
Patients with TS exhibit normal developmental growth until the age of three, at which point growth begins to slow before ceasing after puberty. Patients are prescribed growth hormones to help acquire normal height.4
One physical presentation of TS is web neck, in which the neck appears to have extra folds of skin and the hairline is low on the back of the neck.4 Other clinical features associated with TS are scoliosis, osteoporosis, asymmetrical thoracic torso, abducted wrists, and hands or arms with lymphedema.5
The ovaries of patients with TS are nonfunctional; menstruation does not occur, and most are infertile. Estrogen and progesterone are not produced, so patients are often prescribed these hormones to promote breast development and reduce the risk of osteoporosis.5
TS is associated with heart murmurs and other cardiac problems such as narrowing of the aorta and hypertension that may require medication or surgery, depending on the severity. TS can also cause loss of visual acuity, kidney infections and hypothyroidism. Women with TS have an increased risk for diabetes mellitus.6
Neurologically, individuals with TS are extremely articulate with exceptional reading skills but are underachievers in mathematics and problem solving. They tend to have difficulties with tasks that require fine motor functions.5
Oral manifestations of Turner syndrome are listed in Box 1. Dental hygienists and dentists are most likely to detect oral manifestations of TS during a dental examination. Early identification and diagnosis can help dental professionals implement patient-specific treatment plans and home care regimens. For example, a client with TS lacks fine motor skills, so educating her to use a power toothbrush rather than a manual toothbrush would be beneficial.
Collaborative care is essential for the patient with TS due to the various medications and treatments required. For example, a patient with TS experiencing renal insufficiency, narrowing of the aorta and hypertension may require the use of selective anesthetics and sedation dentistry to prevent exacerbation of these conditions.
Awareness and understanding of the physiological attributes of patients with TS are as crucial as identification and treatment of the oral manifestations of the condition.
Risk Factors
Hagman et al. studied 494 female babies with TS born between 1973 and 2005 to identify risk factors in mothers as well as characteristics of the newborns. Mother’s age, recreational habits such as smoking, parity and height were noted as were babies’ gestational age, method of delivery, size at birth and Apgar score. This study concluded older women with petite body frames are at risk for giving birth to babies with TS. Furthermore, neonates born preterm and small for their gestational age are at a greater risk for developing TS than babies born to younger women of average stature. Also, neonates with TS born preterm in the last trimester had lower birth weights and shorter lengths when compared to other neonates born during this time period.7
Oral Manifestations of TS Classified by Karyotypes
Rizell et al. compared the dental crown widths and certain types of X-chromosome defects of TS in 132 subjects ranging in age from six to 66 years. All participants underwent genetic karyotyping and were grouped according to TS karyotype. Maxillary and mandibular dental casts were taken on each participant. Afterwards, each tooth was measured horizontally mesio-distally with the exception of the third molars.8 The study revealed that subjects with isochromosome karyotype had the smallest dental crown widths when compared to the other groups.
There are multiple etiologies for decreased tooth size in patients with TS. One is amelogenesis, in which a thin layer of enamel is formed during the growth cycle.8 This is associated with the 45,X karyotype of TS. Zilberman, et al. performed a study comparing the dental crown sizes of 49 patients with 45,X Turner syndrome to control groups or related and unrelated individuals. Data collection and analysis revealed females with the 45,X chromosome had smaller crowns than control subjects as well as thinner enamel due to amelogenesis.9
Benefits of Using Growth Hormone with TS
Hass et al. investigated the effects of TS using panoramic, cephalometric and wrist radiographs. The intent was to observe the growth stages of the craniofacial and dental development in 28 Caucasian female subjects, comparing the results annually. Their ages at baseline ranged from four to 19 years. All of the participants received growth hormones as part of a subgroup study. Each subject had annual radiographs taken for a span of two to five years. Results showed that participants with TS had apparent anatomical deviations compared to the control group.10
Several radiographic cranial and oral maxillofacial abnormalities were found during the study. The sella turcica was anatomically posterior to the nasal spine and smaller in subjects with TS than in those without. The body of the mandible was smaller in participants with TS than those without. Lastly, the position of maxilla was deviated more posteriorly and the base of the cranium was larger in patients with TS.
This study concluded that early administration of growth hormone may be beneficial if administered during the developmental period of the cranial base. However, it did not have an effect on the growth and development of the jaw, facial or tooth structures. Furthermore, age dictated whether there were benefits of receiving these hormones due to the unlikelihood of growth in the maxillary and mandibular regions after puberty.11
Comprehensive Dental and Physical TS Study
Szilagyi et al. investigated several oral manifestations of TS in 25 participants with the condition and 35 without. All subjects received a primary screening for periodontal disease, heart abnormalities, temporomandibular joint dysfunction, orthognathic problems, tooth and crown morphologies and the dimensions of the bony aspects of the alveolar ridges.
Oral examination determined the number of teeth missing, restored or decayed, excluding third molars. Periodontal assessment by probing and Loe and Silness gingival assessment were performed.12 Angle’s classification was used for orthognathic evaluations, and mandibular and maxillary cast models were taken. Crown widths of selected teeth were measured.
Results of the study determined that subjects with TS had fewer decayed, missing or restored teeth than the control group. However, these individuals were more likely to have class I mobility on the mandibular incisors. Fifty-two percent had a class II occlusion, and significant protrusions with open or multiple crossbites.12 Additionally, subjects with TS also had a wider mandibular alveolar arch compared to the control group. This study concluded that temporomandibular function was not affected in either group. It also urged greater emphasis on early diagnosis and treatment of dental problems for patients with TS.12
Recommended Guidelines for Management of TS
Guidelines developed by Bondy and the Turner Syndrome Consensus Study Group advise that patients with TS should have their first dental visit with a pediatric dentist by the age of two and a consultation visit with an orthodontist before the age of seven. The guidelines recommend early detection and interventions to help manage the oral manifestations of TS.13
Bondy also recommended prophylactic antibiotics for cardiovascular abnormalities such as aortic dilation or dissection. Patients with these conditions can also have spontaneous aortic rupture, which can be fatal. It is also mentioned that these conditions can lead to comorbidities such as mitral and aortic valve defects, coartication, a dilated aorta and systemic hypertension. Hypertension is common in patients with TS. Precautions should
be used when treating patients to prevent enlargement of the aorta and dissectioning (see Table I).
Furthermore, Saenger and Silberbach suggested collaborative care is vital for improving the life of patients with TS. Dentists and orthodontists should work collaboratively with speech therapists to help improve word formation, and with otologists to address ear, nose, and throat problems.14
Turner Syndrome Case Presentation
Russell described the characteristics of TS and how orthodontic treatment can correct the associated malocclusion. The study involved a 17-year-old patient with TS. Her health history included surgeries for coarctation of the aorta, cleft of the soft palate, velopharyngeal insufficiency, tonsillitis and multiple ear problems. She also had numerous treatments for pigmented nevi and webbed neck. Between the chronological ages of 12 to 16 years, she was treated with growth hormone therapy (GHT) for short stature and simultaneously received estrogen supplements to induce puberty. Her dental history revealed routine care by a pediatric dentist, and comprehensive nonsurgical orthodontic treatment (T1) by an orthodontist.15
The dental treatment goals for this patient were achieved. This patient had malocclusion with open and multiple crossbites. Esthetically, they were corrected by closing the overbite with 1 mm overjet; class one occlusion was obtained, and the midline was centered between #8 and #9, and #24 and #25.
The study concluded that the craniofacial and dentition growth rates are key components that dictate the successfulness of orthodontic treatment in females with TS and that patients with TS should be referred to orthodontists promptly.15
Conclusion
It is vital that dental hygienists and dentists be aware of the oral manifestations of TS. Studies have shown that early detection of TS can improve the patient’s quality of life. Also, dental professionals are most likely to detect abnormalities in children with TS because the condition manifests first as dental anomalies in tooth morphology.
The complexity of TS requires ample time for planning dental and medical treatment. TS affects every functioning system in the human body and collaborative care with specialists is suggested.
In TS, the roles for dental hygienists are patient education, use of preventive agents and estalishment of home care routines. Dental hygienists should assess the fine motor skills of TS patients to determine which oral medicaments and aids are appropriate for maintaining restorative and orthodontic treatment. It may be necessary to increase the frequency of prophylaxis recall schedule. Patients will need to be monitored for periodontal disease, caries, mobility of teeth and dental extractions.
References
1. Turner syndrome. National Institute of Child and Human Development, National Institutes of Health. Available at: turners.nichd.nih.gov/. Accessed Jan. 19, 2011.
2. Turner’s syndrome. Medline Plus. National Library of Medicine. Available at: www.nlm.nih.gov/medlineplus/ency/article/000379.htm. Accessed Jan. 4, 2011.
3. Learning about Turner syndrome. National Human Genome Research Institute. National Institutes of Health. Available at: www.genome.gov/19519119. Accessed Jan. 20, 2011.
4. Binder G, Baur F, Schweizer R, Ranke MB. The D3-growth hormone (gh) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. J Clin Endocrinol Metab. 2005; 91(2):659-64.
5. Gravholt C. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol. 2004; 151(6): 657-87.
6. Wihelmsen-Ladin K, Bryman I, Wilhelmsen L. Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome. J Clin Endocrinol Metab. 2001; 86 (9): 4166–70.
7. Hagman A, Wennerholm UB, Källén K et al. Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics. Hum Reprod. 2010; 25(6):1553-60.
8. Rizell S, Barrenäs ML, Andlin-Sobocki A et al. Turner syndrome isochromosome karyotype correlates with decrease dental crown width. Eur J Orthodont. 2012;34(2): 213-8.
9. Zilberman U, Smith P, Avesalo L. Crown components of mandibular molar teeth in 45,X females (Turner syndrome). Arch Oral Biol. 2000; 45(3): 217-25.
10. Hass D, Simmons KE, Davenport ML, Proffit WR. The effect of growth hormone on craniofacial growth and dental maturation in Turner syndrome. Angle Orthod. 2001; 71(1): 50-9.
11. Davenport M, Crowe BJ, Travers SH et al. Growth hormone treatment of early growth failure in toddlers with turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab. 2007; 92(9): 3406-16.
12. Szilágyi A, Keszthelyi G, Nagy G, Madlena M. Oral manifestations of patients with Turner syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;89(5): 577-84.
13. Bondy C, Turner Syndrome Study Group. Care of girls and women with Turner Syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2006; 92 (1): 10-25.
14. Saenger P, Wikland KA, Conway GS et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab. 2001; 86(7): 3061-69.
15. Russell KA. Orthodontic treatment for patients with Turner syndrome. Am J Orthod Dentalfacial Orthop. 2001; 120(3):314-22.
