179PEDIATRIC DENTAL JOURNAL 18(2): 179–186, 2008

179

Received on December 10, 2007

Accepted on June 16, 2008

The clinical oro-facial findings of an 11-year-old Japanese boywith 47, XYY: A case report

Sachiko Hayashi-Sakai*1, Jun Sakai*2, Takuya Kitamura*3,Makoto Sakamoto*3 and Yo Taguchi*1

*1 Division of Pediatric Dentistry, Department of Oral Health Science, Course for Oral Life Science,Niigata University Graduate School of Medical and Dental Sciences2-5274 Gakkocho-dori, Chuo-ku, Niigata 951-8514, JAPAN

*2 Department of System and Automotive Engineering, Niigata College of Technology5-13-7 Kamisinei-cho, Nishi-ku, Niigata 950-2076, JAPAN

*3 Department of Basic Radiological Technology, Niigata University School of Health Sciences, Faculty of Medicine2-746 Asahimachi-dori, Chuo-ku, Niigata 951-8518, JAPAN

Abstract 47, XYY is a sex chromosome-number disorder occurring inmales. Pediatric dentists seldom report encountering 47, XYY males, probablybecause there are no overt signs of the disease. The purpose of this report is topresent the clinical oro-facial findings of the case of a 47, XYY boy based oncephalometric analysis and study model examinations as well as micro-CTmeasurement of tooth mineralization. An 11-year-old Japanese boy was referredto our clinic for extraction of primary teeth because of their prolonged retention.He had 47, XYY disorder, pulmonary hypertension, and slight mental retarda-tion. Cephalometric analysis and study model examinations that included acomparison of tooth size and arch assessments were performed. A furtherattempt was made to demonstrate the degree of dentin mineralization inprimary molars. The boy’s height and weight were normal but his headcircumference had exceeded the 94th percentile since 2 years of age. Thecephalometric analysis showed an increase in the lower facial height andbimaxillary protrusion with a longer mandible. Study model examinationrevealed that the mesio-distal crown widths of all erupted primary and perma-nent teeth were larger than the standard values, except for the mandibularpermanent canines. The degree of dentin mineralization was almost normal inthe crown and root areas. A profilogram showed an increase in the lower facialheight and bimaxillary protrusion with a longer mandible. The dental archshowed a remarkably contracted width but an extended length. The crownwidth was larger than the standard values, but the distribution of the degree ofdentin mineralization differed little from normal.

as exhibiting deviant behavior marked by physicalaggressiveness and violence. It now appears thatadults with this karyotype may be relatively impul-sive, antisocial, and likely to break the law, butthey are not especially aggressive. Approximately 1of 1,000 newborn males has an XYY chromosomepattern2,3). In the infancy, the 47, XYY males shownormal birth weight, height and head circumference,but in adulthood, tall stature is characteristic.Indeed, almost all body, head, and cephalometricdimensions of 47, XYY adults are larger than those

Introduction

47, XYY is one of several sex chromosome-numeral disorders, and exclusively affects males.This chromosomal constitution was first observedby Sandberg et al. in 19611). When the disorder wasfirst discovered in adults, studies of 47, XYY indi-viduals created a stereotype of affected individuals

Case Report

Key words47, XYY males,Cephalometric analysis,Dental arch,Dental mineralization degree,Tooth size

180 Hayashi-Sakai, S., Sakai, J., Kitamura, T. et al.

in normal males with similar body proportions4,5).It has been reported that the tooth size in 47,

XYY males is larger than that of normal males inboth primary and permanent dentitions3,6,7). However,little information is available regarding 47, XYYboys with mixed dentition because these childrenhave no signs of disease and thus are seldomidentified.

The aim of the present report is to describeclinical oro-facial findings of an 11-year-old 47,XYY boy based on cephalometric analysis andan examination of study models that includes acomparison of the primary and permanent teethsizes and arch assessments. A further attempt hasbeen made to demonstrate the degree of dentinmineralization of the primary molars.

Case Report

An 11-year-old Japanese boy was referred to thePediatric Dental Clinic of Niigata University Medicaland Dental Hospital from a private dental clinic forthe extraction of maxillary primary first molars anda mandibular right canine due to their prolongedretention.

The patient’s intranatal data were collected. Hewas a term infant delivered normally at 39 weeksof pregnancy. His birth weight was 2,622 g, hisheight 43.9 cm, his chest circumference 30.2 cm, andhis head circumference 33.0 cm, all of which werewithin normal range. His growth curve was almostnormal except for his head circumference, which

exceeded 94th percentile from 2 years of age (Fig.1A–C). At 11 years of age, when he first visited ourhospital, his weight was 39 kg (average for his agegroup: 39.1�9.16 kg) and his height was 145 cm(average for his age group: 145.1�7.14 cm). On theother hand, the cephalometric radiograph examina-tion showed that his head circumference remainedlarge, as described below.

The patient underwent surgery for heart diseasewith an atrial septal defect at the age of 6 months.In addition, he had pulmonary hypertension andslight mental retardation. After contacting his pedia-trician, it was found that he was also a 47, XYYmale. Haloperidol and biperiden hydrochloride wereprescribed to school-related stress. There were no

Fig. 1 Growth curves in infancy and early childhood

(A) Height (circles) and weight (squares) in infancy. (B) Height and weight in early childhood. (C) Head circumference (triangles)in infancy and early childhood. The shaded zones represent the 94th percentile in Japanese boy.

Fig. 2 Clinical extra-oral views at 11 years of age

181AN 11-YEAR-OLD BOY WITH 47, XYY

Fig. 3 Clinical intra-oral views at 11 years of age

Fig. 4 Radiographic appearance at (A) 11 years and(B) 11 years 5 months

relevant conditions and events in the medical historyof his family members.

Extra-oral findings revealed the presence of mildfacial asymmetry and glabellar mounding (Fig. 2).

The clinical examination showed that all eruptedteeth were caries-free (Fig. 3). Radiographicalfindings revealed that both mandibular secondpremolars were congenitally missing (Fig. 4A). He

Fig. 5 Profilogram from the cephalometric radiographanalysis

The solid line represents the present case, and the brokenline normal standard values.

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had no oral habits, abnormal tongue position, ormouth-breathing.

Treatment

Both maxillary primary first molars and the man-dibular right canine were extracted due to prolongedretention. The mandibular primary second molarswith severe resorption of the mesial roots were alsoextracted, due to their poor retention and becausetheir successors were congenitally missing. After 5months, the mandibular first molars moved towardthe mesial and the extracted spaces closed almostspontaneously (Fig. 4B).

Cephalometric radiograph analysis

For the cephalometric landmarks and standardvalues, data from the Japanese Society of PediatricDentistry were used8). All subjects in the databasehad normal occlusion and were aged from 8 years 11months to 13 years (mean age: 11 years old). Theprofilogram was compared with standard values todisplay the differences in skeletal features (Fig. 5).This comparison showed an increase in the S-Nlength and a lower facial height as well as bimax-illary protrusion with a longer mandible.

Study model examination

1) Dental arch width and lengthThe dental arch width and length were measured

using a sliding caliper with an accuracy of 0.05 mm.The landmarks used in the present study weredefined by Moorrees9). The dental arch was measuredaccording to Otsubo’s method for cases of mixeddentition10). The arch width and length were measuredand compared with standard values in Japanesechildren with normal occlusion at the same age; theinspection items considered included the mandibularinter-cusp width of permanent canines (3C-3C), max-illary inter-cusp width of primary canines (CC-CC),maxillary and mandibular inter-buccal groove widthof first molars (6-6), and the arch length betweenthe inter-labial surfaces of the permanent centralincisors and the distal surfaces of primary secondmolars (1-ED) (Fig. 6A)10). Although 3C-3C waswithin the normal range, CC-CC and 1-ED exceededthe mean plus the standard deviation, and maxillaryand mandibular 6-6 were quite small, far from themean value (Fig. 6B). As a result, both the maxillaand mandible showed a remarkably contracteddental arch in the molar region, but an extendeddental arch length.

2) Mesio-distal crown widthsThe mesio-distal crown widths of primary andpermanent teeth crowns were measured according tothe method and standard values defined by Otsuboand the Japanese Society of Pediatric Dentistry11,12).The mesio-distal crown widths of all erupted primary

Fig. 6 (A) Inspection items for the dental arch width and length in the study model examination. 1: Inter-cusp of primary caninesin the maxilla (CC-CC) and permanent canines in the mandible (3C-3C). 2: Inter-buccal groove of permanent first molars(6-6). 3: Inter-labial surfaces of permanent central incisors and the distal surfaces of primary second molars (1-ED).(B) Comparison with normal standard values (broken line)

Hayashi-Sakai, S., Sakai, J., Kitamura, T. et al.

A

B

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and permanent teeth were larger than the standardvalues in normal Japanese children, except forthose of mandibular permanent canines (Fig. 7). Thefollowing tendencies were noted:1. The values of the primary molars were further

away from the standards than those of thepermanent teeth.

2. The values of the posterior teeth were moredeviated from normal than those of the anteriorteeth. Therefore, the maxillary and mandibularprimary second molars were markedly larger thanstandard values.

Degree of dentin mineralization in primarymolars

The three-dimensional geometry of both extractedmandibular second primary molars for which thedistal roots were not physiological resorbed wereanalyzed. For purpose of comparison, sound man-dibular primary second molars that were extractedfrom a normal boy for tooth alignment at 12 years 2months of age were used as a control. These sampleswere analyzed using a micro-CT (SMX-130CT-SV;Shimadzu Co., Tokyo, Japan). For measurement

of the degree of dentin mineralization in primarymolars, a degree of mineralization of bone (DMB)quantitative evaluation system was applied to theinvestigation. This system is a simple, accurate andnovel mineralization measuring system13,14).

To determine the degree of dentin mineralization,a phantom containing K2HPO4 solutions of knownconcentrations was developed. Since there was alinear relationship between the CT number and theconcentration of the K2HPO4 solutions, the degreeof dentin mineralization could be estimated fromthe CT numbers of the K2HPO4 solution in thephantom using the least squares method. Extractedprimary teeth were examined and analyzed as 300cross-sectioned slices on the micro-CT. The resolu-tion of the micro-CT images was confirmed to be58�m/pixel. In the present study, each micro-CTimage was picked up and observed. Figure 8 showsa micro-CT image of the primary second molar ina cross-section of the crown area. There werefew differences in the distribution of the degree ofdentin mineralization between our patient with 47,XYY and the normal boy in the cross-section ofthe crown area. The comparison of the degree of

Fig. 7 Mesio-distal crown widths are shown as a comparison with normal standard values

AN 11-YEAR-OLD BOY WITH 47, XYY

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dentin mineralization in the root area also showedno relevant difference between the patient and thecontrol.

Discussion

General conditions and anomalies

In the present case, the birth weight, height, chestcircumference, and head circumference were withinthe 94th percentile on the normal growth curve, butthe head circumference was beyond the normalgrowth curve from 2 years of age. At the age of 11years, although the patient’s height was still normal,his profilogram showed an increase in the S-Nlength and lower facial height, as well as bimaxillaryprotrusion with a longer mandible. It has beenreported that 47, XYY males do not differ fromnormal infants in birth weight, stature, and headcircumference, but that the velocity of height growthincreases significantly from 2 years of age15). By 5years of age, boys with 47, XYY are above the 50thpercentile for height and approximately 38% areabove the 90th percentile. Grön et al. have statedthat 47, XYY adult males exhibit an increasedlower facial height with posterior rotation of themandible; they also show a tendency to bimaxillaryprotrusion with a longer mandible and a smallerramus inclination5). The findings in the present caseare in approximate agreement with these previouslyreported adult tendencies, except with respect tothe height growth.

It has been reported that approximately 20% ofthe patients have various minor anomalies3). Theobserved minor anomalies and subtle phenotypicalterations included mild facial asymmetry, glabellarmounding, long ears, a highly arched palate, and abony chin point3). There has also been a case reportof a 47, XYY patient with double lip, cleft palate,skeletal mandibular protrusion with congenitallymissing teeth, and velopharyngeal incompetence16).The present case had mild facial asymmetry, glabellarmounding and both mandibular second premolarswere congenitally missing, but the other previouslyreported anomalies were not observed.

Dental anomalies

According to our survey of the literature, there havebeen only 4 case reports on 47, XYY males over thelast 2 decades in the oral and maxillofacial field16).In addition, there have been no reports that includea comparison of primary and permanent teeth sizesduring mixed dentition in the same individual, or ananalysis of dentin mineralization.

In the present case, the mesio-distal crownwidths in primary teeth were remarkably larger thanthose of normal boys, and the crown widths of theerupted permanent teeth were also larger, exceptfor those of the mandibular canines. Several reportshave indicated that both primary and permanentteeth dimensions in 47, XYY males tend to be largerthan those of normal males6,7). Townsend et al.7)

have noted that the crown sizes of affected males

Fig. 8 Micro-CT images of primary molars of the present case (A) and a control (B) in a cross-sectionof the crown area

Both images have the same magnification ratio.

Hayashi-Sakai, S., Sakai, J., Kitamura, T. et al.

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are significantly larger on the primary canines andmolars, and that permanent teeth dimensions are alsolarger except for the maxillary permanent canine.Their findings roughly correspond to those in thepresent case.

Based on their findings, Townsend et al.7) havehypothesized that the earlier-forming permanentteeth tend to be more affected and larger indimension than the later-forming ones. This trendcould not be fully applied to the present case ofmixed dentition, since the primary second molarsexhibited the largest width among the primary teeth.Our results therefore suggest that the size of theprimary molars is more affected than that of thepermanent molars, and that the posterior teeth aremore deviated in dimension from the normal than theanterior teeth. Therefore, maxillary and mandibularprimary second molars would be remarkably largein comparison with standard values. It has beenhypothesized that the Y chromosome affects toothcrown growth in normal males7). Therefore, it maybe that the extra Y chromosome in 47, XYY males isresponsible for the increase in size of the primaryand/or posterior teeth.

As a result of the examination of study models,it was revealed that both the maxilla and mandibleshowed a remarkably contracted dental arch in themolar region, but an extended dental arch length.These findings have not been previously reported butmight be related to the present syndrome as minoranomalies.

As for the distribution of the degree of dentinmineralization on mandibular molars, there were fewdifferences in distribution between our patient with47, XYY and the normal boy used for comparison.It was indicated that the 47, XYY boy had a largetooth size with an almost normal degree of dentinmineralization in the crown and root areas.

The present findings can be summarized asfollows:1. The profilogram showed an increase in the lower

facial height and bimaxillary protrusion with alonger mandible;

2. The dental arch showed a remarkably contractedwidth in the molar region;

3. The crown widths were larger than the standardvalues; but

4. The distribution of the degree of dentin mineral-ization differed little from normal.The patient has been kept under observation

and has undergone periodic examinations to date. It

will be important to continue the careful follow-upand to monitor the progress of change to permanentdentition.

Acknowledgments

The authors are grateful to Dr. G. Yamako, a PublicInstitute Research staff of the Venture BusinessLaboratory of Niigata University, for his technicalsupport with the DMB quantitative evaluation system.This study was supported in part by a Grant-in-Aidfor Young Scientists (B) (No. 18791548) from theMinistry of Education, Culture, Sports, Science, andTechnology of Japan.

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