Periodontal manifestations of patients with Turner's syndrome: Report of 3 cases.

Complete or partial absence of the second sex chromosome, with or without a mosaic karyotype, is detected in approximately 1 per 2,500 live-born females. Such a cytogenetic finding coupled with clinical features, such as short stature and ovarian failure, supports the diagnosis of Turner's syndrome (TS). It is typically characterized by the combination of physical features and cytogenetics in females. The presenting clinical features can vary widely among affected individuals. Consequently, whereas short stature and gonadal dysgenesis are almost universal in TS, many other organ systems are affected to varying degrees and at different stages of life. The periodontal status of three females diagnosed with TS has been reported here.

INTRODUCTION

Turner's syndrome (TS) is a symptom complex also called X0 syndrome or Bonnevie-Ulrich syndrome. It was first described by Turner and Ulrich in 1938, and it represents one of the most frequent chromosomal aberrations.[12] TS is a relatively common birth defect stemming from a chromosomal disorder associated with an absent or abnormal X-chromosome and is characterized by the presence of only one normal functioning X chromosome.[3] The other sex chromosome can be missing or can be abnormal.[2] TS occurs in 1 in 2500 to 1 in 3000 live-born girls,[4] and although X monosomy is the most commonly occurring sex chromosome anomaly, the vast majority of Turner conceptuses are spontaneously aborted.[5]

The syndrome described by Turner in 1938 consisted of short stature, primary amenorrhea, infantile uterus, vagina, and breasts, ovarian agenesis, pterygium colli, cubitus valgus, and low hair line at the back of the neck.[6] Two of the most constant oral findings reported were a high palatal vault and a hypoplastic mandible.[3] The teeth were found to be prematurely erupted, crowded, and with abnormally short roots.[6] In TS, many other organ systems may also be affected to varying degrees and at different stages of life.[3] Various clinical features of TS (general and oral) previously reported in the literature have been listed in Table 1.

Table 1

Features of Turner's syndrome

CASE REPORTS

Three cases of TS have been presented here. The periodontal manifestations (clinical and radiographic) of the three cases have been discussed.

Case 1

A 21-year-old female reported with the chief complaint of multiple mobile teeth in the mouth since one year. Physically, the patient was of a short stature and had a webbed neck with low hairline at the back of the neck [Figure 1a]. Medical history revealed that the patient had been diagnosed with TS five years back [Figure 1b]. Ultrasound report of the abdomen revealed hypogonadism [Figure 1c]. No other systemic abnormalities were reported. Intraorally, the patient presented with a midline diastema; a high-arched palate; grade III mobility of maxillary left first molar (tooth 26), maxillary left second premolar (tooth 25) and mandibular left central incisor (tooth 31); grade II mobility of the mandibular left and right, first and second molars (teeth 36, 37, 46, and 47) with a probing depth of >8 mm except for tooth 47, which showed a probing depth of >10 mm. Inflammation of the gingiva was minimal, as were the presence of local irritating factors like plaque and calculus [Figure 1d]. Miller's class II recession was seen on tooth 31. Grade III furcation involvement was seen in teeth 26, 36, and 37. Grade I furcation involvement was seen in teeth 46 and 47. Radiographic features [Figure 1e] showed extensive vertical bone loss extending upto the root apex in relation to teeth 25 and 26; extending to more than two-thirds of the root length on both mesial and distal aspects in relation to tooth 31; extending upto half of the root length in relation to teeth 36, 37, and 46; and extending upto the apical one-third on the mesial aspect of tooth 47.

Figure 1

(a) Extraoral features; (b) Cytogenetics report confirming 45XO status (names hidden to conceal identity); (c) Ultrasound abdomen showing underdeveloped right and left uteri; (d) Intraoral features; (e) Radiographic presentation

Case 2

A 21-year-old female reported with the chief complaint of deposits on teeth since six months and desired “cleaning” of her teeth [Figure 2a]. General examination revealed short stature of the patient and short webbed neck. Medical history disclosed that the patient had delayed milestones. On further inquiry, the patient gave a history of having been diagnosed with TS two years back [Figure 2b]. Under-developed ovaries were seen on the ultrasound scan of abdomen [Figure 2c]. No other systemic abnormalities were reported. Intraorally, high-arch palate; extruded maxillary left central incisor (tooth 21); anterior deep bite; and crowding of mandibular anterior teeth with a labially erupted mandibular right central incisor (tooth 41) were seen [Figure 2d]. Inflammation was limited to the marginal gingiva of all teeth except in the lower anterior region. Radiographic examination revealed mild generalized horizontal bone loss [Figure 2e].

Figure 2

(a) Extraoral features; (b) Cytogenetics report confirming 45XO status (names hidden to conceal identity); (c) Ultrasound abdomen showing hypogonadism typical of Turner's syndrome; (d) Intraoral features; (e) Radiographic presentation

Case 3

A 25-year-old female reported with the chief complaint of bleeding gums during tooth brushing since six months [Figure 3a]. General physical examination revealed that the patient was of a short stature and had a low hairline at the back of the neck. Medical history revealed that the patient had been recently diagnosed with TS. Ultrasound scan of the abdomen showed underdeveloped uterus on both the right and left sides [Figure 3b]. No other systemic abnormalities were reported. Intraoral examination revealed high-arch palate; rotated maxillary right lateral incisor (tooth 12); a missing mandibular right first molar (tooth 46); lower anterior crowding with grade I mobility; and thinned enamel on the labial surface of maxillary teeth. Severe marginal and papillary gingival inflammation was seen associated with abundant deposits of plaque and calculus [Figure 3c]. Generalized Miller's class I recession was observed. Radiographically, vertical bone loss extending upto half of the root length on the distal aspect of tooth 41; mesial aspect of tooth 22; and on both the mesial and distal aspects of tooth 21 was observed. A mild degree of horizontal bone loss was also observed in relation to teeth 16, 25, 26, 45, and 46 [Figure 3d].

Figure 3

(a) Extraoral features; (b) Ultrasound abdomen showing hypogonadism; (c) Intraoral features; (d) Radiographic presentation

DISCUSSION

TS is used to describe girls with abnormalities of the X chromosome and associated phenotypic features such as short stature and ovarian failure.[7] It is the most common sex chromosome abnormality in females affecting an estimated 3% of all females conceived.[12] The frequency among live-born females is 1 in 2500 to 1 in 3000.[34] Approximately, 98-99% of TS fetuses are spontaneously aborted, and about 20% of all spontaneously aborted fetuses have TS.[14]

The human genome normally consists of 46 chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes (XX in females and XY in males). Usually, TS patients have only 44 autosomes plus one X chromosome.[14] Girls with TS miss either one X chromosome (45X), or part of it. At times, some parts of the body have normal cells that contain two X chromosomes (46XX), while cells in other parts miss one X chromosome (45X). This is known as mosaicism.[15]

TS can be diagnosed before birth by chromosomal analysis of cells obtained from amniotic fluid.[25] One-fifth to one-third of affected girls are diagnosed at birth because of the presence of puffy hands and feet or redundant nuchal skin.[4] The diagnosis of TS may be delayed into late childhood, adolescence, or even adulthood because of failure to recognize the significance of poor growth (98%) or gonadal failure (95%) with subsequent pubertal delay.[3] Approximately, one third of girls with TS receive the diagnosis in mid-childhood on investigation of short stature. In most other patients with TS, the condition is diagnosed either in adolescence when they fail to enter puberty or in adulthood because of recurrent pregnancy loss.[4] Oral health professionals may be instrumental in the initial identification of the syndrome and in recognizing subsequent associated problems.[14]

There is a need to differentiate TS from Noonan's Syndrome (NS), which is an autosomal dominant inherited disorder that is characterized by dysmorphic facial features, short stature, and heart disease. The phenotype also includes webbing of the neck, chest deformities, cryptorchidism, mild mental retardation, and a host of bleeding problems.[3] The characteristic abnormalities resemble those in TS which only affects females. NS affects both males and females.[16] The observation that patients with NS have normal karyotypes (46XY or 46XX) is important in allowing the distinction to be made with TS.[10] Cardiac abnormalities are common in NS, particularly pulmonary stenosis and ventricular hypertrophy. However, disorders of the aortic valve sinuses and root, which are common in TS, are not usually seen in NS.[18] Other syndromes which may resemble TS phenotypically include Leopard syndrome, Costello syndrome, and CFC syndrome. These syndromes are seen in both males and females and have normal karyotypes (46XY or 46XX), and hence can be easily differentiated from TS.[19]

The three cases reported here represent typical cases of TS. Classical findings of short stature, gonadal dysgenesis, primary amenorrhea and cytogenetic studies suggested the diagnosis of TS. The karyotype was found typical of TS (45XO) and thus could be differentiated from other syndromes.

Several oral manifestations of TS have been reported in the literature [Table 1]. High-arch palate was a common finding in the three cases reported here. Hypoplasia of the mandible[81415] or reduction in tooth size[8] was not seen in any of the cases. Thinned enamel on the labial surfaces of maxillary teeth was noticed in case 3, but this was probably a result of improper brushing habits rather than a result of the TS status. OHI-S (Oral Hygiene Index-Simplified) scores were low in case 1 and case 2, but very high in case 3. While the gingiva appeared relatively normal in case 1 and case 2, severe gingival inflammation was observed in case 3. Mobile teeth and deep periodontal pockets associated with the presence of minimal local irritating factors and mild inflammation of the gingiva was observed in case 1, which is characteristic of aggressive periodontitis. In case 2, crowding of mandibular anterior teeth with a labially erupted mandibular right central incisor was observed; mobile teeth and periodontal pockets were not observed. Mobility of mandibular anterior teeth was observed in case 3, which was attributed to trauma from occlusion; no periodontal pockets were seen. Thus, the three cases of TS reported here, presented with entirely different pictures of periodontal disease.

Girls with TS are at greater risk for root resorption, which can lead to tooth loss, especially during orthodontic treatment. In addition, micrognathia is often present, which can cause crowding of the lower teeth.[8] Hence, early diagnosis of oral manifestations is of utmost importance in cases of TS.[2] The high arched and narrow palate also contributes to dental mal-alignment. Orthodontic evaluation should be considered for all girls with TS after the eruption of permanent teeth. Growth hormone (GH) treatment can alter craniofacial proportions and girls with TS treated with GH should receive periodic orthodontic follow-up.[8] TS girls and their families should be well motivated to maintain proper oral hygiene and good systemic health with periodic check-ups.[2]

CONCLUSION

The three cases of TS reported here, presented with contrasting periodontal manifestations. Though there were common features like short stature, gonadal dysgenesis, and high-arch palate, there was no consistent similarity with respect to the involvement of the periodontium. While one case presented with an aggressive form of periodontitis associated with extensive bone loss, the second case presented with only gingivitis without any bone loss. The third case showed intermediate features with localized periodontitis and mild bone loss. We conclude that there are no consistent findings in the periodontal status of patients with Turner's syndrome and that the 45XO status may not contribute to the changes in the periodontium. Further studies involving higher number of TS patients are needed to verify the effect of 45XO status on periodontal disease activity.