G. D'Alessandro, L. Armuzzi, G. Cocchi, G.
Piana and fibrosis of the seminiferous tubules and elevated
Department of Dental Science, Dental School,
Alma Mater Studiorum, University of Bologna, Bologna, Italy
e-mail: dr.dalessandro@gmail.com
Eruption delay
in a 47 XXY male:
a case report
abstract
Background The 47,XXY syndrome, or Klinefelter
syndrome, though it is a rare occurrence, it is the
most common sex choromosome disorder affecting
male subjects. This syndrome is underdiagnosed and
seldomly before puberty. In this case, diagnosis was
made before birth, through chorion villus sampling.
Case report A 16 month-old Italian male with
47 XXY syndrome showed the absence of primary
teeth, with a delay of about 8-10 months, whereas
during the first 15 months of life the auxological
development has been normal both in weight and
height (about 50th percentile). We assumed that
this delay may be linked with Klinefelter syndrome,
as sexual chromosomes play an important role in the
dental development.
Keywords Dental eruption delay; Klinefelter
syndrome; Primary dentition.
Introduction
Klinefelter syndrome is the most commonly occurring
sex-chromosome disorder. It is characterised by
the presence of one or more extra X chromosomes.
Several X-aneuploidy variants exist, including 47 XXY,
48 XXYY, 48 XXXY, and 49 XXXXY [Hunter et al.,
2003] but the karyotype 47 XXY is the most prevalent,
occurring in approximately 80% of the cases [Gorlin,
1977]. The birth prevalence of chromatin-positive
males is approximately 2:1000.
The “classical” Klinefelter syndrome is associated with
the 47,XXY karyotype and is characterised by narrow
shoulders, broad hips, sparse body hair, gynecomastia at
late puberty, hypogonadism (small testes, azoospermia/
oligospermia), androgen deficiency, hyalinization
European Journal of Paediatric Dentistry vol. 13/2-2012
urinary gonadotrophins [Bojesen and Gravholt, 2007].
This means that these subjects do not produce enough
of the testosterone hormone before birth and during
puberty; as a consequence during puberty, the normal
male sexual characteristics do not develop fully.
Affected males may exhibit psychosocial problems and
minor developmental and learning disabilities, including
delayed speech and language acquisition.
However, a less distinct phenotype has been
described.
Klinefelter syndrome is an underdiagnosed condition;
only 25% of the expected affected patients are
diagnosed, and of these only a minority are diagnosed
before puberty [Hata et al., 2001]. Patients with
Klinefelter syndrome should be treated with lifelong
testosterone supplementation starting at puberty,
to prevent the long-term deleterious consequences
of hypogonadism and to secure proper masculine
development of sexual characteristics, muscle bulk and
bone structure [Bojesen and Gravholt, 2007].
Evidence accumulated over the last four decades
supports the role of both X and Y chromosomes,
independently of secondary hormonal influences,
on growth and development of dental structures
[Garn and Rohman, 1962]. In general, the results of
measurements of enamel and dentine layers thickness
in individuals with various types of sex chromosome
abnormalities indicate that the X chromosome
primarily influences enamel thickness, whereas the Y
chromosome promotes both enamel deposition and
dentine growth [Alvesalo 1981, 1985].
Cephalometric investigation reveals reduced calvarial
size, reduced cranial base angle, and gonial angle
wider than normal. Both maxillary and mandibular
prognathism tend to occur [Ingerslev and Kreiborg,
1978]. In addition, various dental features have been
observed, including taurodontism, [Stewart, 1974;
Jaspers and Witkop 1980] congenital absence of
permanent teeth [Stewart, 1974], shovel incisors
[Gardener and Girgis 1978] and increased permanent
tooth size [Townsend and Alvesalo, 1985].
Case report
A 15 month-old Italian male was referred to the
Department of Special Care, School of Dentistry of
Bologna University.
The Chorion Villus Sampling (CVS) that had been
carried out at the 12th week of gestation revealed a
male karyotype 47 XXY, consistent with Klinefelter
syndrome. From the familiar medical history we learned
that the mother had previously had two miscarriages,
at the first month and at the 23th week of gestation
because of chorioamnionitis.
The child was normally delivered at 36 weeks; birth
159
D’Alessandro G. et al.

cm
56
54
52 CRANICAL
50
CIRCUMFERENCE
48
46
104
44
42 102

40 104

38 98

36 94

34 90

32 86

30 82

28 17 HEIGHT 78

26 16 74
70
fig. 2 The maxillary arch.
24 15
22 14 66

20 13
12
11
10
9
WEIGHT
8
7
6
5
4 cm
3
2
1
0 between the number of sexual chromosomes and
kg 0 1 2 3 6 9 1 2 3
fig. 1 Pediatric growth chart percentiles.
weight was 2,920 g and height 50 cm. Immediately
after birth he was enrolled in a follow-up program at
the Paediatric Department of the Sant’Orsola-Malpighi
University Hospital of Bologna, Italy, in order to perform
regular auxological evaluations.
New karyotype analysis confirmed the diagnosis
of Klinefelter syndrome. The abdominal ultrasound
was normal,while cerebral ultrasound showed a mild
enlargement of LLVV and of the interhemisphere space.
During the first 15 months of life the child exhibited
a good auxological development, both in weight and
in height, with values in the 50th percentile (Fig. 1).
His clinical conditions are good and the neuromotor
development is age-appropriate as well. He underwent
vitamin D implementation.
A clinical evaluation of the baby mouth revealed the
total absence of primary dentition at the age of 16
months (Fig. 2).
Discussion
The child exhibited a severe delay in dental eruption
of the primary teeth. Considering that the common
timing of eruption of central lower primary incisors is
around 6-8 months, we observed a delay of about 8-10
months. The eruption delay of primary mandibular
incisors is an important clinical information because
62
58
54
the auxological development of the child is otherwise
50 normal (Fig. 1). In addition there are not changes in
46
other organs of ectodermal derivation.
42
38
Though there is no evidence in literature that
34 eruption delay of primary teeth is a typical Klinefelter
30
26
syndrome feature, we suppose it may be linked with
this syndrome because sexual chromosomes play an
important role in the dental development.
Further studies are needed to investigate the relations
dental anomalies.
Acknowledgements
We would like to thank the Fondazione del Monte di
Bologna e Ravenna for the support.
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