Dental features in patients

with Turner syndrome

A. FAGGELLA, M.G. GUADAGNI, S. COCCHI, T. TAGARIELLO, G. PIANA

ABSTRACT. Aim This was to investigate the dental characteristics (caries sensitivity and tooth crown size of
permanent elements) in subjects affected by Turner Syndrome (TS). Patients and methods A group of 25 patients
affected by TS, aged from 4 to 18 years, was selected and the data were compared to those of an age matched
control healthy group. The caries index values in TS patients are higher in the permanent (6.4 vs. 3.9), mixed
(0.5 vs. 0.75) and primary dentition (0 vs. 1). The mesio-distal diameter in TS patients was significantly reduced
for every tooth measured (in particular for the lower first permanent molar). Results and conclusion This
investigation confirms that numeric aberration of the X chromosome most likely affects the quantitative and
qualitative excretion of amelogenin so that teeth often present enamel defects (reduced crown size and enamel
hypoplasia). High caries index values (DMFT) highlight the demand of early preventive measures mostly
focused on special care patients.

KEYWORDS: Turner syndrome, Crown width, Caries, Enamel hypoplasia.

Introduction The most frequent oral findings in TS patients are:

Turner syndrome (TS) is a symptom complex
characterised by the presence of a single X
functioning chromosome. TS occurs in 1:1500-2500
live female births.
The clinical signs depend on which genes cheat the
deactivation. Anyway some characteristics are
typical: short stature, gonadal dysgenesis and
hormonal disorders (oestrogen deficiency),
phenotypic features (congenital lymphedemal,
epicanthal fold, short and webbed neck, ptosis of
eyelids, prominent ears).
The hormonal variation is responsible of the
different cranio-facial growth pattern affecting the
endocondral ossification of the skull structures.
TS patients are frequently carriers of congenital
heart disease (aortic coarctation).
Mental development is usually regular even if
psychological troubles have been observed.
Many studies about the aberration of X
chromosome showed the relation between the sexual
chromosome and dental growth. Anyway the effect of
sexual chromosome aberration on dental morphology
is less explored [Midtbø and Halse, 1994].
Department of Dental Science, Special Care Patients Unit
Alma Mater Studiorum University of Bologna (Italy)
E-mail: giulia_guadagni@hotmail.com
small teeth, short roots, narrow upper arch and high
palatal vault, hypoplastic mandible.
The permanent dentition is characterised by a
deviating pattern with respect to crown morphology;
this anomaly could be responsible of increased
frequency of occlusal anomalies [Midtbø and Halse,
1994; Alvesalo and Laine, 1992].
The aim of this study was to detect the dental
features of a group of 25 patients with TS in order to
formulate specific guidelines for dental prevention
and therapy.
Patients and methods
Twentifive patients with TS (aged from 4 to 18
years) came from all over Italy for evaluation with
the “Turner Syndrome Study Group” of the
University Hospital of Bologna and were selected for
the present study. They were compared to a control
group composed by 25 healthy girls of the same age
range randomly selected.
All the subjects underwent:
- dental examination;
- alginate impressions for study cast;
- x-ray examination (orthopantomography).
The number of teeth, enamel hypoplasia and the
caries index (DMFT, dmft) were detected clinically
according to the WHO method.

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A. FAGGELLA ET AL.

The mesio-distal permanent crown diameters were (6.1%). Among the control patients, only 3 of them
measured by means of a digital caliper on the dental showed enamel defects of 8 elements over 501
casts according to Moorees [Grembowski et (1.5%).
al.,1988]. Teeth not fully erupted or damaged by In the study group the mesio-distal crown
trauma, restorations and deep caries were excluded. diameters of the permanent elements were reduced
Dental anomalies regarding shape, number and compared to the control group. The average diameter
position were detected on the orthopantomography. difference of the Turner patients is 1.4 mm: in
The two groups were divided into three sub-groups particular the width of the crown of the first lower
according to the dentition: molar is 23.3% smaller.
- Turner/Control Sub-group A: 15 patients with The average difference between the teeth of the 2
permanent dentition; groups is represented in table 1 and figure 1.
- Turner/Control Sub-group B: 4 patients with
mixed dentition;
- Turner/Control Sub-group C: 6 patients with Discussion
primary dentition. The mesio-distal diameter is significantly reduced
in the Turner Group: it is generally accepted that the
dental crown morphology cannot be altered after full
Results mineralisation has been reached. The critical period
The caries index was calculated separately for each of odontogenesis is therefore between the initial
sub-group and compared. development stage and the mineralisation stage of the
The Turner sub-group A showed a mean DMFT of dental crown [Midtbø and Halse, 1994]. The human
6.4 (D=3.8; M=3.5; F=1.7) while the Control sub- enamel protein gene amelogenin is expressed from
group A showed a mean DMFT 3.9 (D=2.5; M=1.7; both the X and the Y chromosomes: it is supposed
F=3.9). that chromosomal aneuploidy can directly influence
Mean caries index of the Turner sub-group B was enamel formation and crown size [Kollar, 1983;
0.5 (D=0.3; M=0; F=0.3), while in the Control sub- Lippe, 1990].
group B it was 0.75 (D=0.3; M=0; F=0.5). The reduced size of the tooth crown probably is
Mean dmft was 0 in the Turner sub-group C (D=0; function of the reduced thickness of the enamel layer.
M=0; F=0) and 1 in the Control sub-group C The effect of sex chromosome aberrations on dental
(D=0.7; M=0; F=0.3). morphology is less explored.
Enamel hypoplasia was detected in 10 Turner The tooth size is dependant on the number of X
patients (40%): of 504 elements 31 were affected chromosomes: the more the Xs, the larger, mainly
due to an increase in the enamel layer. It seems that
genes on the X chromosomes control growth in
general and that the X chromosome is able to
influence stature, tooth size and enamel thickness
Tooth Turner Control Δ mm Δ%
+1+ 7,3 8 ,3 1,0 12%
-1- 4,7 5,6 0,9 16,1%
+2+ 5,2 6,2 1,0 16,1%
-2- 5 6 1,0 16.7%
+3+ 6,9 8,1 1,2 14.8%
-3- 5,7 7 1,3 18,6%
+4+ 6,1 6,8 0,7 10,3%
-4- 5,9 7 1,1 15,7%
+5+ 5,5 6,7 1,2 17,9%
-5- 6,2 7,2 1,0 13,9%
+6+ 9,1 10,2 1,1 10,8%
-6- 8,9 11,6 2,7 23,3%
+7+ 8,4 10,9 2.5 22,9%
-7- 8,3 10,5 2,2 21,0%

TABLE 1 - Mean tooth size of both groups. FIG. 1 - Mean tooth size of both groups.

166 EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • 4/2006


[Midtbø and Halse, 1992].
X chromosome mapping allowed the location of the
genes involved in the odontogenesis on the short arm
(locus p 22): in particular AMGX is the gene
encoding an enamel organic matrix protein excreted
by the ameloblasts, which regulates the formation of
crystallites during the secretory stage of enamel
development [Salido et al., 1992; Sasaki and
Shimokawa, 1995].
The prevalence of enamel hypoplasia in TS patients
is higher than in Control group. Absence or
aberration of one of the two X chromosomes can
affect the enamel excretion, quantitatively (reduced
tooth diameter) and qualitatively (enamel
hypoplasia). Furthermore it is supposed that the
reduced oxygen demand during the development of
the dental buds, due to the congenital heart disease
(30% of the Turner patients are affected by CHD),
could influence the enamel structure so that enamel
hypoplasia is more frequent.
Clinically the higher sensitivity to dental decay can
be due to the enamel structural defects. As a matter of
fact, DMFT is higher in TS patients than in the
Control Group (6.4 vs. 3.9). D (decayed) and M
(missing) values, higher than the F (filled), point out
a difficult access to dental treatments.
The observed dmft=0 in patients with deciduous
dentition is a remarkable finding, being pertinent to
patients who had early access to our dental service.
Early approach can be a very effective way to get
parents and patients involved in the dental prevention
system.
The operator, focusing on prevention rather than
therapy, can explain the importance of oral hygiene
and fluoride assumption (tablets, gel, varnish, milk,
water, etc).
Conclusions
In conclusion, our investigation confirms the
hypothesis that numeric aberration of the X
chromosome most likely may affect the excretion of
amelogenin quantitatively and qualitatively so that
the dental elements often present enamel defects
(reduced crown size and enamel hypoplasia).
High caries index values (DMFT) highlight the
demand of early preventive measure mostly focused
on special care patients.
Systemic fluoride assumption (to be started at 6
months of age) should be prescribed by
paediatricians in order to minimise the caries risk
along with oral hygiene practices and reduced sugar
consumption.
EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • 4/2006
DENTAL FEATURES IN PATIENTS WITH TURNER SYNDROME
References
Alvesalo L, Laine T. Occlusion in 47, XXY Klinefelter Syndrome
men. Am J Hum Genet 1992;33:464-469.
Berdahl LD, Wenstrom KD, Hanson JW. Web neck anomaly and
its association with congenital heart disease. Am J Med
Genet1995;56:304–307.
Fraschini M, Crinò A, Castelli E, Gatto R. Aspetti
odontostomatologici della sindrome di Turner: revisione della
letteratura. Riv It Odont Inf 1997;(3)17-21.
Grembowski D, Milgrom P, Fiset L. Factors influencing dental
decision making. J Public Health Dent 1988;48:159-67.
Hass A, Simmons K, Davenport M, Proffit W. The effect of
growth hormone on craniofacial growth and dental maturation
in Turner syndrome. Angle Orthod 2001;71:50-59.
Hassold T, Benham F, Leppert M. Cytogenetic and molecular
analysis of sex chromosome monosomy. Am J Hum Genet
1988;42:534–541.
Kollar EJ. Epithelial-mesenchymal interaction in the mammalian
integument: tooth development as a model for instructive
induction. In: Sawyer RH, Fallon J (eds). Epithelial-
mesenchymal interaction in development. New York: Praeger
Press; 1983. p. 27-49.
Lippe BM. Physical and anatomical abnormalities in Turner
Syndrome. In: Rosenfeld RG, Grumbach MM (eds). Turner
Syndrome. New York: Marcel Dekker Inc; 1990. p. 187-204.
Lopez ME, Bazàn C, Lorca IA, Chervonagura A. Oral and
clinical characteristics of a group of patients with Turner
syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod
2002;94:196-204.
Mayhall JT, Alvesalo L. Dental morphology of 45,X0 human
females: molar cusp area, volume, shape and linear
measurements. Arch Oral Biol 1992;37:1039-1043.
Mazzanti L, Cacciari E. Congenital heart disease in patients with
Turner’s syndrome. Italian Study Group for Turner Syndrome
(ISGTS). J Pediatr 1998;133:688–692.
Midtbø M, Halse A. Skeletal maturity, dental maturity, and
eruption in young patients with Turner syndrome. Acta
Odontol Scand 1992;50:303-312.
Midtbø M, Halse A. Tooth crown size and morphology in Turner
syndrome. Acta Odontol Scand 1994;52:7-19.
Midtbø M, Halse A. Occlusal morphology in Turner syndrome.
Eur J Orthod 1996;18:103-109.
Midtbø M, Halse A. Root length, crown height and root
morphology in Turner syndrome. Acta Odontol Scand
1994;52:303-314.
Midtbø M, Wisth PJ, Halse A. Craniofacial morphology in young
patients with Turner syndrome. Eur J Orthod 1996;18:215-
225.
Ogata T, Matsuo N. Turner syndrome and sex chromosome
aberration: deduction of the principal factors involved in the
development of clinical features. Hum Genet 1995;95:607-629.
Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ. The
167
A. FAGGELLA ET AL.
human enamel protein gene amelogenin is expressed from
both the X and Y chromosomes. Am J Hum Genet
1992Dec;51(6):1451-2.
Sasaki S, Shimokawa H. The amelogenin gene. Int J Dev Biol
1995;39:127-33.
Szilagyi A, Madlena M, Nagy G. Oral manifestations of patients
with Turner syndrome. Oral Surg Oral Med Oral Pathol Oral
Radiol Endod 2000May;89(5):577-84.
Thesleff I. The genetic basis of normal and abnormal craniofacial
168
development. Acta Odontol Scand 1998;56:321-325.
Ullrich O. Uber typische Kombinationsbilder multipler
Abartungen. Z Kinderheilk 1930;49:271–276.
Vandewalle KS, Castro GW, Camm J.H. Dental management of a
patient with Turner syndrome. J Clin Pediatr Dent
1993;18(1):27-30.
Zilberman U, Smith P, Avesalo L Crown components of
mandibular molar teeth in 45,X females (Turner syndrome).
Arch Oral Biol 2000;45:217-225.
EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • 4/2006