PEDIATRIC DEIVTAL JOURAIAL 18(2): 179-186, 2008

Case Report

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

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

*' Division of Pediauic Dentistry, Department of Oral IIealth Science, Course for Oral Life Science, Niigata University Graduate School of Medical and Dental Sciences 2-5274 Gaklslocho-dori, Chuo-ku, Niigata 951-8514, JAPAN*2 Department of System and Automotive Engineering, Niigata College Qf Technology 5-13-7 Kamisinei-cho, Nishi-ku, Niigata 950-2076, JAPAN*3 Department of Basic Radiological Technology, Niigata University School of Health Sciences, Faculty of Medicine 2-746 Asahimachi-dori, Chuo-ku, Niigata 951-8518, JAPAN

Abstract 47, XYY is a sex chromosome-number disorder occuning in Key wordsmales. Pediatric dentists seldom report encountering 47, XYY males, probably 47, XYY males,because there are no overt signs of the disease. The purpose of this report is to Cephalometric analysis,present the clinical oro-facial findings of the case of a 47, XYY boy based on Dental arch,cephalometric analysis and study model examinations as well as micro-CT Dental mineralization degree,measurement of tooth mineralization. An 1 1-year-old Japanese boy was referred Tooth sizeto our clinic for extraction ofprimary 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 headcircumierence 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 1arger 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 facial

height and bimaxillary protrusion with a longer mandible. The dental arch .showed a remarkably contracted width but an extended length, The crownwidth was 1arger than the standard values, but the distribution of the degree ofdentin mineralization differed little from normal.

Introduction as exhibiting deviant behavior marked by physical aggressiveness and violence. It now appears that47, XYY is one of several sex chromosome- adultswiththiskaryotypemayberelativelyimpul-numeral disorders, and exclusively affects males. sive, antisocial, and likely to break the law, butThis chromosomal constitution was first observed they are not especially aggressive. Approximately 1by Sandberg et al. in 1961'). When the disorder was of 1,OOO newborn males has an XYY chromosomefirst discovered in adults, studies of 47, XYY indi- pattem2•3). In the infancy, the 47, XYY males show

viduals created a stereotype of affected individuals normal birth weight, height and head circumference,

but in adulthood, tall stature is characteristic.

Received on DecemberlO, 2007 Indeed, almost all body, head, and cephalometricAccepted on June 16, 2008 dimensions of 47, XYY adults are 1arger than those

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in normal males with similar body proportions`•5).

It has been reported that the tooth size in 47,

XYY males is 1arger than that of normal males inboth primary and permanent dentitions3•6•7). However, .. wsteptlg":kv..ta.Iittle information is available regarding 47, XYY 'tW.Y{•?:':"':egtmp."srvboys with mixed dentition because these children i.II•le i.,a• )i.,Si'L'ie

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identified. ""g'i,r.[/:•.S.,aji.i',.ves"'kiibe"D The aim of the present report is to describe 2i•i'{'`S"X, 'abilkagkg'f .

.gl?,clinical oro-facial findings of an 11-year-old 47, as ."t?vai.Tsc,•'.tt}.es/,mtXYY boy based on cephalometric analysis and ,rw,Fk. .esptM'tTngt:,g.su../S'i,.ms.ties"b,an examination of study models that includes a ths, ti,'si.w'es.. vest mSkl:""i'S•ies.comparison of the primary and permanent teeth 'estS} "as.ee'gee

sizes and arch assessments.A further attempt has ptbeen made to demonstrate the degree of dentin Fig. 2 Clinical extra-oral views at ll years ofagemineralization of the primary molars.

Case Report , exceeded 94th percentile from2years of age (Fig. IA-C). At 11 years of age, when he first visited ourAn 11-year-old Japanese boy was referred to the hospital, his weight was 39kg (average for his agePediatricDentalClinicofNiigataUniversityMedical group: 39.1Å}9.16kg) and his height was 145cmand Dental Hospital from a private dental clinic for (average for his age group: 145.1 Å}7.14cm). On the

the extraction of maxillary primary first molars and other hand, the cephalometric radiograph examina-a mandibular right canine due to their prolonged tion showed that his head circumference remained

retention. 1arge, as described below. The patient's intranatal data were collected. He The patient underwent surgery for heart diseasewas a term infant delivered normally at 39 weeks with an atrial septal defect at the age of 6 months.

of pregnancy. His birth weight was 2,622g, his In addition, he had pulmonary hypertension andheight 43.9 cm, his chest circumierence 30.2 cm, and slight mental retardation. After contacting his pedia-

his head circumference 33.0cm, all of which were trician, it was found that he was also a 47, XYYwithin normal range. His growth curve was almost male. Haloperidol andbiperidenhydrochloride werenormal except for his head circumference, which prescribed to school-related stress. There were no

' AIV II-YEAR-OLD BOY WITH 47, XIZY 181

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

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relevantconditions and events in the medical history The clinical examination showed that all erupted

ofhis family members. teeth were caries-free (Fig. 3). Radiographical Extra-oralfindingsrevealedthepresenceofmild findings revealed that both mandibular secondfacial asymmetry and glabellar mounding (Fig. 2). premolars were congenitally missing (Fig. 4A). He

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

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in 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 Iine)

had no oral habits, abnormal tongue position, or usingaslidingcaliper with an accuracy ofO.05mm.

mouth-breathing. The landmarks used in the present study •were defined by MQorrees9). The dental arch was measured

Treatment according to Otsubo's method for cases of mixedBoth maxillary primary first molars and the man- dentitioniO). The arch width and length were measured

dibularrightcaninewereextractedduetoprolonged and compared with standard values in Japaneseretention. The mandibular primary second molars children with normal occlusion at the same age; thewith severe resorption of the mesial roots were also inspection items considered included the mandibular

extracted, due to their poor retention and because inter-cusp width ofpermanent canines (3c-3c), max-their successors were congenitally missing. After 5 illary 'inter-cusp width of primary canines (Cc-Cc),

months, the mandibular first molars moved toward maxillary and mandibular inter-buccal groove widththe mesial and the extracted spaces closed almost of first molars (6-6), and the arch length between

spontaneously (Fig. 4B). the inter-labial surfaces of the permanent central incisors and the distal surfaces of primary secondCephalometric radiograph analysis molars (1-E.) (Fig. 6A)'O). Although 3c-3c wasFor the cephalometric landmarks and standard within the normal range, Cc-Cc and 1-ED exceededvalues, data from the Japanese Society of Pediatric the mean plus the standard deviation, and maxillary

Dentistry were used8). All subjects in the database and mandibular 6-6 were quite small, far from thehad normal occlusion and were aged from 8 years 11 mean value (Fig. 6B). As a result, both the maxilla

months to 13 years (mean age: 11 years old). The and mandible showed.a remarkably contractedprofilogram was compared with standard values to dental arch in the molar region, but an extendeddisplay the differences in skeletal features (Fig. 5). dental arch length.

This comparison showed an increase in the S-Nlength and a lower facial height as well as bimax- 2) Mesio-distal crown widths

illaryprotrusionwithalongermandible. The mesio-distal crown widths of primary and permanent teeth crowns were measured according toStudy model examination the method and standard values defined by Otsubo1) Dental arch width and length and the Japanese Society of Pediatric Dentistryii•'2).The dental arch width and length were measured Themesio-distalcrownwidthsofalleruptedprimary

rw Il-YEAR-OLD BOY wrTH 47, X]YY 183

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and permanent teeth were 1arger than the standard of the degree of dentin mineralization in primaryvalues in normal Japanese children, except for molars, a degree ofmiReralization ofbone (DMB)thoseofmandibularpermanentcanines (Fig. 7). The quantitative evaluation system was applied to thefollowing tendencies were noted: investigation. This system is a simple, accurate and1. The values of the primary molars were further novel mineralization measuring systemi3•i4).

away from the standards than those of the Todeteiminethedegreeofdentinmineralization, permanent teeth. aphantom containing K2HP04 solutions of known2. The values of the posterior teeth were more concentrations was developed. Since there was a deviated from normal than those of the anterior linear relationship between the CT number and the teeth. Therefore, the maxillary and mandibular concentration of the K2HP04 solutions, the degree primary second molars were markedly larger than of dentin mineralization could be estimated from

standard values.. the CT numbers of the K2HP04 solution in the phantom using the least squares method. ExtractedDegree of dentin mineralization in primary primary teeth were examined and analyzed as 300

molars cross-sectioned slices on the micro-CT. The resolu-The three-dimensional geometry of both extracted tion of the micro-CT images was confirmed to bemandibular second primary molars for which the 58ptm/pixel. In the present study, each micro-CTdistal roots were not physiological resorbed were image was picked up and observed. Figure 8 showsanalyzed. For purpose of comparison, sound man- a micro-CT image of the primary second molar indibular primary second molars that were extracted a cross-section of the crown area. There werefrom a normal boy for tooth alignment at 12 years 2 few differences in the distribution of the degree of

months of age were used as a control. These samples dentin mineralization between our patient with 47,

were analyzed using a micro-CT (SMX-130CT-SV; XYY and the nomial boy in the cross-section ofShimadzu Co., Tokyo, Japan). For measurement the crown area. The comparison of the,degree of

l84 Ha.vashi-Sakai, S., Sakcti, 1., Kitainiti"a, T. et aL

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Both images have the same magnification ratio.

dentin mineralization in the root area also showed It has been reported that approximately 20% ofno relevant difference between the patient and the the patients have various minor anomalies3'. The

controL observed minor anomalies and subtle phenotypic alterations included mild facial asymmetry, glabellar

Discussion MOUnding, long ears,ahighly arched palate, anda bony chin point3'. There has also been a case reportGeneral conditions and anomalies ofa47, xYY patient with double lip, cleft palate,In the present case, the birth weight, height, chest skeletal mandibular protrusion with congenitallycircumference, and head circumference were within missing teeth, and velopharyngeal incompetence`6'.the 94th percentile on the normal growth curve, but The present case had mild facial asymrnetry, glabellar

the head circumference was beyond the normal mounding and both mandibular second premolarsgrowth curve from 2 years of age. At the age of 1 l were congenitally missing, but the other previously

years, although the patient's height was still normal, reported anomalies were not observed.

his profilogram showed an increase in the S-Nlength and lower facial height, as well as bimaxmary Dental anomalies

protrusion with a longer mandible. It has been According to our survey ofthe literature, therehavereported that 47, XYY males do not differ from been only 4 case reports on 47, XYY males over thenormal infants in birth weight, stature, and head last 2 decades in the oral and maxillofacial field'6'.circumference, but that the velocity of height growth In addition, there have been no reports that include

increases significantly from 2 years of age'5). By 5 a comparison of primary and permanent teeth sizes

years of age, boys with 47, XYY are above the 50th during mixed dentition in the same individual, or an

percentile for height and approximately 389o are analysis of dentin mineralization.above the 90th percentile. GrOn et al. have stated In the present case, the mesio-distal crownthat 47, XYY adult males exbibit an increased widthsinprimaryteethwereremarkablylargerthanlower facial height with posterior rotation of the those of normal boys, and the crown widths of themandible; they also show a tendency to bimaxillary erupted permanent teeth were also larger, exceptprotrusion with a longer mandible and a smaller for those of the mandibular canines. Several reportsramus inclination5). The findings in the present case have indicated that both primary and permanentare in approximate agreement with these previously teeth dimensions in 47, XYY males tend to be Iarger

reported adult tendencies, except with respect to than those of normal males6J). Townsend et al.7)

the height growth. have noted that the crown sizes of affected males

AN II-YEAR-OLD BOY WITH 47, XYY 185

are significantly 1arger on the primary canines and will be important to continue the carefu1 follow-up

molars, and that permanent teeth dimensions are also and to monitor the progress of change to permanent

1arger except for the maxillary permanent canine. dentition.Their findings roughly correspond to those in the

PreSfinatseCdaSoei their findings, Townse-nd et ai.,) have Acknowiedgments

hypothesized that the earlier-forming permanent The authors are gratefu1 to Dr. G. Yamako, a Publicteeth tend to be more affected and 1arger in Institute Research staff of the Venture Businessdimension than the later-forming ones. This trend Laboratory of Niigata University, for his technicalcould not be fu11y applied to the present case of support with the DMB quantitative evaluation system.mixed dentition, since the primary second molars This study was supported in part by a Grant-in-Aidexhibited the largest width among the primary teeth. for Young Scientists (B) (No. 18791548) ,from theOur results therefore suggest that the size of the Ministry ofEducation,Culture,Sports,Science, andprimary molars is more affected than that of the Technology ofJapan.permanent molars, and that the posterior teeth are

more deviated in dimension from the normal than theanterior teeth. Therefore, maxmary and mandibular ReferenCeS

primary second molars would be remarkably 1arge 1) Sandberg, A.A., Koepf, G.F., Ishihara, T. andin comparison with standard values. It has been Hauschka, T•S.: An XYY human male. Lancet 2::•K,si,k2Z,ir7Zw,eS•?l.R'tatnjoXlii}i.8-,hr.a:,eM,s'),S\,Y;•Åía\ff•g8.iSiEiOgOg,:,.22'SDi#/lhie2oirg92'llti/6,'Ns:,.Xs,i;snck}`Bohoiik,dgf,filzd,'i`&86s;

responsible for the increase in size of the primary 3) Gorlin, R.J., Cohen, M.M. and Hennekam, R.C.M.:

and/or posterior teeth. Syndromes of the Head and Neck. 4th ed. Oxford As a result of the examination of study models, University Press, New York, 2001, pp.66-67.it was revealed that both the maxilla and rnandible 4) Varrela, J• andAlvefialo,L.: Effects oftheYchromg- some on quantitative growth: an anthropometncshowed a .remarkably contracted dental arch in the study of 47, xyy males. Am J Phys Anthrop 68:molar region, but an extended dental arch length. 23g-24s, lgs5.These findingshave notbeen previously reportedbut 5) Gr6n, M., Pietila, K. and Alvesalo, L.: The cranio-might be related to the present syndrome as minor facial complex in 47, XYY males.Arch OralBiol 42:

anomalies. 579-586, 1997. 6) Alvesalo, L. and Kari, M.: Sizes of deciduous teeth As for the distribution of the degree of dentin in 47 xyy males. Am J Hum Genet 29' 486-489rmneralization on mandibular molars, there were few lg77.differences in distribution between our patient with 7) Townsend, G.: Tooth size in 47, XYY males: evidence

47, XYY and the normal boy used for comparison. for a direct effect of the Y chromosome on growth.It was indicated that the 47, XYY boy had a 1arge Aust DentJ30: 268-272, 1985.Ifl'i9.th,,gl' i,e,,W,.g' Ah,S",,2i

l?,O.SJÅr:O,:p,1i.gggti2e,,glde"`'" 8'lgag.ayn8ihlaEo.Oll'iStrliYcgf,sga;ngdS':,:tgzC,RiZng/r'etk\iBg,i.,ihlllgddY.,gO,a"fi

The present findmgs can be summarized as English abstract)follows: 9) Moorrees, C.F.: The dentition of the growing child.1. The profilogram showed an increase in the lower A longitudinal study of dental development between,rpigSezh:e,:S,"h,',t'",'2dg,2'.M,ZX:iar,X81Zt,ru,i'8.".X,g,t2,2io)/i.ga,:'g.ld,l.?i'iiii'i5i9aOw,laX,:.iaa"s.:,Iligag'd.ah,1•wsX':Al.?oneeg]

width in the molar region; 13 years of age-Growth changes of dentition-.3. The crown widths were larger than the standard JJpn Orthod Soc 23: 182-190, 1964. (Japanese with

values; but English abstract)4•;.;.ge,,.d.ishr{i.i3gko,n,;,[,gh2,.d.egle.ermo2,qentinminerai- "'8g.gYgb,8,i,ltr'I[li/f:Sgt,ps,l};./jt..h.e,,,E,•?20,kS.I/,a•gei/lha,li'eti,/do?rgo:,lafi

The patient has been kept under observation (In Japanese)and has undergone periodic examinations to date. It 12) Japanese Society of Pediatric Dentistry:, Research

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

conceming the sizes of the primary tooth crown, hydroxyapatite-tricalciumphosphate:predictionwith primary dental arch and condition ofprimary occlu- quantitative CT in mice. Radiology 230: 369-376, sions of the Japanese. Jpn J Ped Dent 31: 375-388, 2004. 1993. (Japanese with English abstract) 15) Ratcliffe, S.G., Axworthy, D. and Ginsborg, A.:13) Augat, P., Gordon, C.L., Lang, T.F., Iida, H. and The Edinburgh study of growth and development in Genant, H.K.: Accuracy of cortical and trabecular children with sex chromosome abnormalities. Birth bone measurements with peripheral quantitative Defects OrigArtic Ser 15: 243-260, 1979. computed tomography (pQCT). Phys Med Biol 43: 16) Shibusawa, F., Fukuda, M., Sakai, H., Sasaici, T. and

2873-2883, 1998. Imai, Y.: Acase of XYY syndrome with velopha-14) Mankani, M.H., Kuznetsov, S.A., Avila, N.A., ryngeai incompetence.JJCPA 29: 175, 2004. (In Kingman, A. and Robey, P.G.: Bone formation in Japanese) transplants of human bone marrow stromal cells and