|Year : 2015 | Volume
| Issue : 4 | Page : 347-350
Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome
Lisa Scheidt1, Mariane Emi Sanabe2, Michele Baffi Diniz1
1 Department of Pediatric Dentistry, School of Dentistry, Cruzeiro do Sul University, São Paulo, Brazil
2 Department of Pediatric Dentistry, Camilo Castelo Branco University, São Paulo, Brazil
|Date of Web Publication||18-Sep-2015|
Dr. Michele Baffi Diniz
Cruzeiro do Sul University - Setor de Pós Graduação, Rua Galvão Bueno, 868 -Liberdade CEP: 01506-000 São Paulo - SP
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Chromosome 47, XYY syndrome is usually diagnosed late. Some of the clinical characteristics of XYY syndrome may be perceptible in dental care. The slow development of cognitive and motor activities and tall stature is common in XYY patients. The aim of this article was to relate the oral, physical, and behavioral aspects of a 6-year-old patient with the chromosome 47, XYY syndrome, diagnosed by means of karyotyping. The patient presented motor difficulty, which led to a fall and traumatism in the anterior region. In the radiography, agenesia of the permanent maxillary lateral incisors, presence of taurodontism in the primary molars, and macrodontia of the maxillary central incisors and permanent molars could be observed. Once the diagnosis was made, it was possible to understand his difficulty at school, and make available appropriate monitoring by a suitable multidisciplinary team to stimulate, control, and minimize the day-to-day difficulties found by patients with this syndrome.
Keywords: 47, XYY syndrome, behavioral symptoms, oral manifestations
|How to cite this article:|
Scheidt L, Sanabe ME, Diniz MB. Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome. J Indian Soc Pedod Prev Dent 2015;33:347-50
|How to cite this URL:|
Scheidt L, Sanabe ME, Diniz MB. Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome. J Indian Soc Pedod Prev Dent [serial online] 2015 [cited 2019 Dec 5];33:347-50. Available from: http://www.jisppd.com/text.asp?2015/33/4/347/165719
| Introduction|| |
The 47 chromosome syndrome of the double Y, of the supermale, XYY karyotype, Jacob's syndrome; or trisomy XYY is an aneuploidy resulting from an extra Y chromosome in addition to the normal male XY pair.  The mean age of diagnosis is usually made around 17 years of age due to the lack of elucidation about this syndrome, and it occurs in 1 out of every 1,000 births of the male sex. 
Among the behavioral characteristics of the XYY patient, neurocognitive alterations, disturbances in speech and writing, and the reduction in motor skills are outstanding. Among the physical characteristics, height is outstanding, in spite of the testosterone level being within the range of normality. 
With regard to the oral aspects, macrodontia, dental agenesia, and delay in eruption in both types of dentition have been verified in XYY syndrome. , The frequency of falls and successive dental traumatisms suggests muscular weakness.  Other findings in the region of the head and neck are muscle atrophy of the inferior part of the face, paralysis of the soft palate, and atrophy of the tongue. 
The aim of this study was to relate the oral aspects of a child with chromosome 47, XYY syndrome, emphasizing the importance of knowing the clinical, cognitive, motor, and behavioral signs in the possible diagnosis of the syndrome.
| Case Report|| |
The patient, a 6-year-old Caucasian boy, weighing 25 kg and measuring 138 cm in height, arrived at the dental office because of a traumatism in the region of teeth 51 and 61, at the beginning of 2012. He had fallen from a chair at home and presented lip lacerations. In anamnesis, the parents emphasized their son's motor difficulties right from the time he was little. He had suffered various falls, and also ruptured the labial frenum in a previous traumatism. In addition, the parents reported that their son presented cognitive delay in comparison with companions and his younger sister. He presented a delay in mental development and a behavior that was not compatible with his age.
During the dental visits the patient was apparently apprehensive and undemonstrative, but tried to cooperate with the examinations. Hand tremors, hypotonia, absent reflex, and other involuntary movements were observed. The boy had a speech disorder and the parents showed signals of super protection and anxiety. In the intraoral exam, it was observed lacerations in the soft tissues in the region of the lips and chin. There was Grade I mobility of teeth 51 and 61. The patient presented oral breathing and hypotonic lips. He was instructed on eating habits and was encouraged to maintain oral hygiene. In the panoramic radiograph, an advanced degree of rhizolysis of teeth 51 and 61 could be verified. In addition, it was possible to observe agenesia of the permanent maxillary lateral incisors, macrodontia of the permanent molars, and taurodontism of the primary molars [Figure 1].
|Figure 1: Initial panoramic radiograph, after the first traumatism of teeth 51 and 61, indicating an advanced stage of rhizolysis. Note agenesia of the permanent maxillary lateral incisors, macrodontia of the permanent molars, and occlusal– apical increase in the pulp chamber of the primary molars|
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In the following week, the patient suffered another traumatism in exactly the same region, when he fell off his bicycle. This time, teeth 51 and 61 were shown to be extruded and were extracted. The oral examination to determine the dmf-t (decayed, missing and filled primary teeth) index was performed and the dmf-t index was 4, being all of filled teeth.
At present, it is possible to observe eruption of the permanent maxillary central incisors, with characteristics of macrodontia with greater height and crown width, and restorations with glass ionomer cement on the vestibular surfaces of the primary canines, with altered color [Figure 2]. On the panoramic radiograph, agenesia of the permanent maxillary lateral incisors, macrodontia of the maxillary central incisorsand permanent first molars was observed once they appear larger than normal, in addition to occlusal-apical increase in the pulp chamber of the primary molars, characteristic of taurodontism. The eruption time of the permanent molars was within the average range [Figure 3]. The dmf-t is 6, being all of filled teeth and the DMF-T (decayed, missing and filled permanent teeth) is zero.
|Figure 2: Patient's oral aspects. Note the aspects of macrodontia of the permanent maxillary central incisors, and glass ionomer cement restorations with a yellow color in the primary canines|
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|Figure 3: Panoramic radiograph, 1 year after the traumatism. Note the aspects of macrodontia in the permanent maxillary first molars and central incisors, agenesia in the permanent maxillary lateral incisors, and taurodontism in the primary molars|
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The mother reported that the patient was submitted to karyotyping at 7 years of age. From an early stage, the parents and pediatrician had suspected that the boy presented Asperger's syndrome, because of his psychological and emotional characteristics. At that time, the patient was under treatment with Ritalin (methylphenidate) as a central nervous system stimulant. The result of the exam, however, reveals that is was chromosome 47, XYY syndrome. The child's parents signed the Term of Free and Informed Consent to allow documentation of this clinical case. Nowadays, the patient is 9-year-old boy and measures 147 cm in height.
The lack of manual dexterity at an earlier age influenced the deficiency of oral hygiene, which contributed to the development of caries lesions in primary dentition. In the dental office, the parents were instructed to complement their son's oral hygiene, due to his motor difficulty. Prophylactic visits every 3 months were requested for the prevention of new lesions. For esthetic reasons, the removal of the glass ionomer restorations that had darkened was suggested, but the parents opted for not having this done. As soon as a better oral hygiene conditions is achieved, an evaluation by an orthodontist will be made in order to obtain a more adequate occlusion.
| Discussion|| |
Frequently, the cases of early diagnosis of chromosome 47, XYY syndrome are those in which the clinical characteristics are evident and symptomatic, such as the presence of convulsion, hypertension, lung problems, genitourinary problems, congenital anomalies, larger stature, larger head circumference, delay in mental development, behavior not compatible with age, macrodontia, dental agenesia, and extensive maxillary and mandibular protrusion. Karyotyping is requested when the clinical behavior leads one to believe that there is a possibility of it being a chromosomal abnormality. , The lack of information and studies about this syndrome leads to it being overlooked by dentists, and frequently it is not identified.  Lack of knowledge delays diagnosis, and consequently harms the child, who goes without adequate treatment. 
Patients with chromosome 47, XYY syndrome present an increase in height, which usually becomes apparent after the age of 5 or 6.  The height of the patient in this case was above the standard, which is in agreement with a previous report.  Although there is a potential for increased height, most affected individuals typically have a normal physical appearance. 
The differential diagnosis for the 47, XYY syndrome is important once some congenital syndromes can cause abnormally tall stature as a pathological phenomenon, such as Klinefelter syndrome, Marfan syndrome, and Sotos syndrome. In Klinefelter syndrome, an extra X and/or Y chromosomes can affect physical, developmental, behavioral, and cognitive functioning. The affected individuals are often overweight and taller than average, with long lower limbs. Marfan syndrome is a genetic disorder that affects connective tissue, and is related to defects or mutations of the fibrillin-1 (FBN1) gene on chromosome 15q21.1. Most patient with this syndrome are quite tall and have long face, long and slender limbs, and chest deformities. Sotos syndrome is caused by mutation in the NSD1 gene and it is characterized by excessive growth before and after birth. Patients with this syndrome are abnormally tall and have a prominent forehead, an arched palate, a pointed chin, and hypertelorism. Developmental delays are present in most children with Sotos syndrome and can include motor and language delays as well as mental retardation ranging from mild to severe. ,
The patient reported on in this clinical case, presented macrodontia of the permanent maxillary first molars and central incisors, which is in agreement with previous studies. , The addition of one extra Y chromosome is effective in increasing the enamel and dentin.  Another similarity between this case and the literature was the dental agenesia.  With the teeth showing aspects of macrodontia, the absence of some teeth may even be beneficial by making space for the eruption of all the teeth in the oral cavity. Nevertheless, orthodontic intervention may be necessary to favor the occlusion of this patient in the future.
It was possible to perceive motor retardation in this patient, which is in agreement with another study.  The patient presented weak muscle tone (hypotonia), hand tremors, and other involuntary movements. Hypotonia is a common finding in individuals diagnosed with 47, XYY syndrome, in approximately 63%, and tremor is present in 43% of the patients.  Dosage alteration of genes on the sex chromosomes, such as an extra Y chromosome, may be involved in the pathogenesis of the hand tremors. 
Furthermore, delay in neurocognitive development of the patient is in agreement with other researches. ,, It was this characteristic that led to the pediatrician requesting the karyotyping exam. Boys with XYY syndrome are the target for exclusion at school, due to the difficulty of accompanying the teachers' lessons and performing the physical activities demanded, suffering from bullying.  Besides, they have a greater risk (approximately 76%) of presenting -attention deficit hyperactivity disorder (ADHD), which would justify the symptoms of hyperactivity and impulsiveness.  Diagnoses of autism spectrum disorder (ASD) were found in 19% patients with XYY syndrome, which can be hypothesized that trisomies may play a significant role in the etiology of communication impairments and ASD.  The patient demonstrated frustration for being unable to perform daily tasks at school, such as physical and intellectual activities.
Although the patient with 47, XYY syndrome did not have a characteristic phenotype, early diagnosis would favor the quality of life of this child, allowing resources to be sought at an early stage and minimizing problems such as social exclusion.  Since pediatric dentists are among the first health professionals to evaluate the child, when they recognize any oral pathology with a systemic manifestation, they would be great allies in the diagnosis and referral of the patient to a team specialized in the treatment thereof. Pediatric dentists should keep in mind that children presenting hand tremors, hypotonia, history of developmental delay, learning disabilities, and tall stature should be considered for chromosome analysis. The chromosome 47, XYY syndrome requires multidisciplinary care, with monitoring by a neurologist, pediatrician, physical therapist, psychologist, and dentist.
| Conclusion|| |
The presence of macrodontia, dental agenesia, taurodontism, delay in the timing of permanent tooth eruption, tall stature, motor difficulty, and cognitive retardation in the patient may indicate the chromosome 47, XYY syndrome. In the presence of any sign that suggests the syndrome, the pediatric dentist must instruct the child's family to seek a doctor, in order to have karyotyping performed. As the correct diagnosis is obtained, it will be possible to have better understanding of the child, and obtain adequate follow-up by a multidisciplinary team that will help with the treatment of this patient. This will facilitate the child's social life, provide guidance as regards stimulation, education, and psychological support as well as strengthen the child's musculature.
| References|| |
Cashion L, Van Roden V. Asperger´s Disorder in an adolescent with 47, XYY chromosomal syndrome. Clin Pediatr 2011;50:562-6.
Stochholm K, Juul S, Gravholt CH. Socio-economic factors affect mortality in 47 XYY syndrome - A comparison with the background population and Klinefelter syndrome. Am J Med Genet A 2012;158A:2421-9.
Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, et al
. Behavioral and social phenotypes in boys with 47, XYY syndrome or 47, XXY Klinefelter syndrome. Pediatrics 2012;129:769-78.
D`Alessandro G, Armuzzi L, Cocchi G, Piana G. Eruption delay in a 47 XXY male: A case report. Eur J Paediat Dent 2012;13:159-60.
Alvesalo L, Osborne RH, Kari M. The 47, XYY male, Y chromosome, and tooth size. Am J Hum Genet 1975;27:53-61.
Alonso G, Fernández-García D, Muñoz-Torres M. An XYY male with azoospermia. Endocrinol Nutr 2005;52:134-8.
Asano A, Motomura N, Yokota S, Yoneda H, Sakai T, Tsutsumi S. Myotonic dystrophy associated with 47 XYY syndrome. Psychiatry Clin Neurosci 2000;54:113-6.
Grön M, Pietilä K, Alvesalo L. The craniofacial complex in 47, XYY males. Arch Oral Biol 1997;42:579-86.
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, et al
. 47, XYY syndrome: Clinical phenotype and timing of ascertainment. J Pediatr 2013;16:1085-94.
Hayashi-Sakai J, Skai J, Kitamura T, Sakamoto M, Taguchi Y. The clinical oro-facial findings of an 11-year-old Japanese boy with 47, XYY: A case report. Pediatr Dent J 2008;18:179-86.
Lebreiro A, Martins E, Machado JC, Abreu-Lima C. Diagnostic challenges of Marfan syndrome in a XYY young man. Cariol Young 2012;22:466-8.
Siegenthaler W. Differential diagnosis in internal medicine: From symptom to diagnosis. Siegenthaler W, editor. 1 st
ed. Stuttgart: George Thieme Verlag 2007; p. 1104.
Alvesalo L, Kari M. Sizes of deciduous teeth in 47, XYY males. Am J Hum Genet 1977;29:486-9.
Shah AH, Manjunatha BS, Bindayel NA, Khounganian R. Oral health management of a patient with 47, XYY syndrome. BMJ Case Rep 2013;5.
Lalatta F, Folliero E, Cavallari U, Di Segni M, Gentilin B, Fogliani R, et al
. Early manifestations in a cohort of children prenatally diagnosed with 47, XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr 2012;38:52.
Bishop DV, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyad PA, et al
. Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child 2011;96:954-9.
Cordeiro L, Tartaglia N, Roeltgen D, Ross J. Social deficits in male children and adolescents with sex chromosome aneuploidy: A comparison of XXY, XYY and XXYY syndromes. Res Dev Disabil 2012;33:1254-63.
Tartaglia NR, Ayari N, Hutaff-Lee C, Boada R. Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY. J Dev Behav Pediatr 2012;33:309-18.
[Figure 1], [Figure 2], [Figure 3]