Report of a case of Turner's syndrome with localized aggressive periodontitis.

Turner's syndrome is a disorder in females characterized by the absence of all or part of a normal second sex chromosome. It is typically characterized by the combination of physical features and cytogenetics in females. Physical features include short stature, primary amenorrhea, hypogonadism, low hair line at the back of the neck, and digital anomalies. Most affected patients have a 45XO monosomy, but the presence of an abnormal chromosome or mosaicism of 45X with another cell line can also fulfill the criteria. Features seen in the oral cavity of patients diagnosed with Turner's syndrome include high palatal vault, hypoplastic mandible, prematurely erupting teeth, and orthodontic anomalies. A case of Turner's syndrome with localized aggressive periodontitis has been reported here.

INTRODUCTION

Henry Turner in 1938 described seven cases of rather uniform appearance, i.e. women with short stature, sexual infantilism, webbing of neck, and cubitus valgus. He named the condition “Turner's Syndrome.”[1] In 1959, it was recognized that Turner's syndrome resulted from the loss of an X chromosome or essential parts of it.[2] This syndrome is characterized by the presence of only one normal functioning X chromosome. The other sex chromosome can be missing or can be abnormal.[3] Most affected patients have a 45XO monosomy, but the presence of an abnormal chromosome or mosaicism of 45X with another cell line can also fulfill the criteria. Growth failure is a consistent finding at birth in infants with Turner's syndrome. However, the time of onset and pattern of growth deficiency is unknown.[45]

The presenting clinical features of Turner's syndrome can vary widely among the affected individuals. Consequently, whereas short stature and gonadal dysgenesis are almost universal in Turner's syndrome, many other organ systems are also affected to varying degrees and at different stages of life.[4] Many features in the oral cavity typical of the 45XO phenotype have previously been reported. These include high arched palate,[6] hypoplastic mandible, thin enamel and decreased amount of dentin,[7] tooth mobility and periodontal pockets,[3] reduced tooth size,[8] small mesiodistal dimensions of teeth,[9] prematurely erupted teeth, and various malocclusions.[10]

A 21-year-old female patient who was prediagnosed with Turner's syndrome and presented with localized aggressive periodontitis has been reported here.

CASE REPORT

A 21-year-old female reported to the Outpatient Department of Periodontics, Mamata Dental College and Hospital, Khammam, with the chief complaint of multiple mobile teeth in the mouth since 1 year. On physical examination, it was seen that the patient was of short stature and had webbed neck with a low hair line at the back of the neck. Medical history revealed that the patient had been diagnosed with Turner's syndrome 5 years back [Figure 1]. Ultrasound report of the abdomen revealed hypogonadism [Figure 2]. On intraoral examination, the patient presented with midline diastema [Figure 3], high-arch palate [Figure 4], 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, 47) with a probing depth of >8 mm except for tooth 47 that showed a probing depth of >10 mm. Clinical recession was not seen except for tooth 31, which showed Miller's class II recession. Grade III furcation involvement was seen in teeth 26, 36, and 37. Grade I furcation involvement was seen in teeth 46 and 47.

Figure 1

Cytogenetics report showing a missing chromosome (45XO) diagnostic of Turner's syndrome

Figure 2

Ultrasonogram of the abdomen revealing hypogonadism

Figure 3

Intraoral picture showing midline diastema (arrow)

Figure 4

Intraoral picture showing a high-arch palate (arrow)

Radiographic examination [Figure 5] revealed extensive bone loss extending up to the root apex in relation to teeth 25 and 26; bone loss extending to more than two-thirds of the root length on both mesial and distal aspects in relation to tooth 31; bone loss extending up to half of the root length in relation to teeth 36, 37, and 46; and bone loss extending up to the apical one-third only on the mesial aspect of tooth 47.

Figure 5

Preoperative orthopantomogram revealing extensive bone loss in the firstmolar areas

A full-mouth flap surgery along with regenerative procedures was planned. Routine blood investigations were performed. All blood reports were within the normal range. Complete oral prophylaxis was carried out and the patient was given thorough oral hygiene instructions. The patient was prescribed 100 mg Doxycycline for 10 days (two tablets on day 1 and one tablet daily for the remaining 9 days) and Metronidazole 400 mg for 5 days (thrice daily).

Teeth with poor prognosis, i.e. 25, 26, and 31 (grade III mobile) were extracted. After phase I therapy, root canal treatment was performed in tooth 47. During flap surgery, the areas of bone loss in relation to 16, 36, 37, and 46 were grafted with porous hydroxyapatite (Osteogen®Impladent Ltd., Holliswood, New York, USA) [Figure 6]. The mesial portion of 47 was hemisected and the area was grafted with porous hydroxyapatite (Osteogen®).

Figure 6

Osteogen® (porous hydroxyapatite)

The patient was recalled after 6 months for re-evaluation of oral hygiene, gingival status, mobility, and pocket depths. Oral hygiene was found to be good, with probing depths reduced to <5 mm in all treated teeth. All teeth were firm with no mobility. The midline diastema that was present preoperatively closed postoperatively (after periodontal therapy) by “Reactive Positioning” or “Spontaneous Repositioning” [Figure 7]. Follow-up after 1 year showed good amount of bone fill in the bone-grafted areas on radiograph [Figure 8]. The patient was fully satisfied with the treatment outcome.

Figure 7

“Reactive positioning” causing closure of the midline diastema (arrow)

Figure 8

Postoperative orthopantomogram revealing good bone fill in the treatedareas (arrows)

The baseline status of the treated teeth, the treatment administered, and their postoperative status has been summarized in Table 1.

Table 1

Baseline status, treatment administered, and postoperative status of the treated teeth

DISCUSSION

Turner's syndrome is a complex medical condition characterized by oral, physical, and psychological features.[7] It is the most common sex chromosome abnormality in females, affecting an estimated 3% of all females conceived.[11] The frequency among live-borne females is 1 in 2000 to 1 in 3000.[4] Approximately 98–99% of Turner's syndrome fetuses are spontaneously aborted, and about 20% of all spontaneously aborted fetuses have Turner's syndrome.[7]

The human genome normally consists of 46 chromosomes: 22 pairs of autosomes plus the X and Y chromosomes. Women are born with two complete X chromosomes. Usually, Turner's patients have only 44 autosomes plus one X chromosome.[7] Girls with Turner syndrome are either missing one X chromosome (45X) or a part of it. Sometimes, parts of the body have normal cells that contain two X chromosomes (46XX), while other cells are missing one X chromosome (45X). This is known as mosaicism. Turner's syndrome is not hereditary.[10]

Turner's syndrome can be diagnosed before birth through chromosome analyses on cells from amniotic fluid.[312] One-fifth to one-third of the affected girls receive diagnosis as newborns.[5] The diagnosis of Turner's syndrome may be delayed into late childhood, adolescence, or even adulthood.[4] Approximately one-third of the girls with Turner's syndrome receive the diagnosis in midchildhood on investigation of short stature. In most other patients with Turner's syndrome, the condition is diagnosed either in adolescence or in adulthood.[5] Noonan syndrome is an autosomal-dominant inherited disorder that has characteristic abnormalities resembling those in Turner's syndrome.[13] However, Noonan syndrome affects both males and females.[1314] The observation that patients with Noonan syndrome have normal karyotypes (46XX or 46XY) is important in allowing the distinction to be made between the two syndromes.[13]

The case reported here represents a typical case of Turner's syndrome. Classical findings of short stature, gonadal dysgenesis, primary amenorrhea, and cytogenetic studies confirmed the diagnosis of Turner's syndrome. The karyotype was found to be typical of Turner's syndrome (45XO) and hence Noonan syndrome was excluded from the differential diagnosis.

Several oral manifestations of Turner's syndrome have been reported in the literature. A high-arch palate was found in the present case. However, hypoplasia of the mandible[7] or reduction in tooth size[8] was not seen. Oral Hygiene Index-Simplified (OHI-S) scores were low and the gingiva appeared normal, with mild inflammation. Mobility and deep periodontal pockets were observed in relation to the molars and incisors, as would be expected in a case of localized aggressive periodontitis.

In the present case report, antimicrobial therapy followed by regenerative periodontal therapy was carried out and the patient was followed-up for a period of 1 year. A satisfactory outcome was achieved. The fact that the patient was a female with Turner's syndrome and had underdeveloped gonads did not affect the treatment outcome.

The literature has many case reports describing “Reactive Positioning” or “Spontaneous Correction” of pathologic migration following periodontal treatment.[1516] These reports indicate that migrated teeth sometimes move back to their normal position following nonsurgical periodontal treatment alone or, in some instances, when combined with surgical methods.[17] In the present case, a midline diastema was present at baseline. However, posttreatment, it was noticed that the midline diastema had closed and the maxillary central incisors approximated each other. Thus, in the present case, midline diastema disappeared by reactive positioning after surgical periodontal therapy [Figure 7].

Dental hygiene treatment for the Turner's syndrome patient offers many challenges.[7] Early diagnosis of oral manifestations is of utmost importance.[3] Observing the patient in the reception area and treatment room, taking a complete and thorough medical history, documenting medications, and assessing vital signs allow for comprehensive care and the formulation of individualized treatment plans.[7] Orthodontic evaluation should be considered for all girls with Turner's syndrome when permanent teeth have erupted.[8] The family of any girl diagnosed with Turner's syndrome must be well-motivated to take good care of her dental health in addition to her general health.[3]

CONCLUSION

In the present case, surgical and regenerative periodontal therapy in a female with Turner's syndrome showed a successful outcome. A reduction in mobility of teeth was observed and the patient was highly satisfied with the result. We conclude that patients with Turner's syndrome respond to surgical and regenerative periodontal procedures in much the same way as would patients with a normal phenotype.