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Case of Klinefelter’s syndrome in an 18 year old male presented with antisocial personality disorder
Bilge Burcak Annagur, Ali Kandeger
Full Text
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Article No: 9 Article Type : Case Report
Klinefelter’s syndrome (KS) is the most common chromosomal aberration among men and is associated with multiple psychiatric comorbidities. Individuals with KS have an increased prevalence of psychiatric disturbances, ranging from attention deficit and hyperactivity disorder (ADHD) in childhood to schizophrenia and severe affective disorders during adulthood. We want to present a case report of KS who presented with antisocial personality disorder and related disorders which are ADHD, conduct disorder and alcoholism. The common feature of all these disorders may be associated with X-linked chromosomes.
Keywords : Antisocial personality disorder, Klinefelter’s syndrome
Dusunen Adam : The Journal of Psychiatry and Neurological Sciences : 2014;27:254-256
Full Text:
INTRODUCTION
Klinefelter’s syndrome (KS, 47, XXY) is the most common chromosomal aberration among men and the incidence of the syndrome is 2.0 per 1,000 live-born males. The physical and cognitive phenotype associated with XXY is highly variable. Individuals with XXY may have hypogonadism, fertility problems, tall stature, gynecomastia, language based learning disabilities, and disorders of executive function (1).
Previous research has raised concerns that individuals with KS have an increased prevalence of psychiatric disturbances, ranging from attention deficit hyperactivity disorder (ADHD) in childhood to schizophrenia and severe affective disorders during adulthood (2). 47, XXY aneuploidy is found in about 0.8-1% of men hospitalized for schizophrenia, representing a four-fold to five-fold excess over the incidence at birth of KS (3). A survey of hospital admissions and discharge diagnoses among individuals with XXY in Denmark (n=832) and a randomly selected age-matched control group (n=4033) found that individuals with XXY had an increased relative risk of being hospitalized for psychiatric disorder, particularly for psychoses (4). A psychiatric screening of 31 adults with XXY showed an increased prevalence of psychosis (6.5%) and depression (19.4%) (5).
Bruining et al. (2) found that language disorder 65% as the most prevalent disorder followed by ADHD (63%) and autism spectrum disorder (27%) in this syndrome. Behavioral impairment was most evident among cases classified as autism spectrum disorder and psychotic disorder 12%. Although there are much reports regarding to KS associated with psychiatric disorders in literature, there are limited reports regarding to personality traits (6). We want to present a case report of KS who presented with antisocial personality disorder.
CASE
A 17 year-old boy was admitted to the Emergency Department because of aggressive behavior, substance use and self mutilation. Upon presentation to the emergency room, he described his mood as “out of temper” with sleep disturbances. He reported having difficulty in maintaining interpersonal relationships. He denied significantly depressed mood. He also stated that he got nervous from time to time but denied any symptoms of generalized anxiety disorder, post-traumatic stress disorder, obsessive-compulsive disorder or panic disorder. He reported that he felt paranoid while in a stressful situation but denied any auditory or visual disturbances or paranoia during that encounter.
He started drinking alcohol when he was 8 years old, and he started to use cannabis when he was 11 years old. He had impulsive behaviors since childhood. He reported that he had multiple self-inflicted injuries. He added that he had legal problems due to fights at school. His past psychiatric history was significant for a diagnosis of ADHD and conduct disorder. He was started on methylphenidate 20mg two times a day for ADHD when he was 8 years old but he could not tolerate and did not use it. His grandfather has schizophrenia. He had significant dysphoric mood in mental status examination. Physical examination indicated that he is a tall (200cm) and overweight (110kg) boy with long arms and legs. His blood pressure and his heart rate were normal. There were no withdrawal symptoms. We thought of Klinefelter’s syndrome due to his physical appearance. Cytogenetic studies showed a 47, XXY karyotype. All other investigations, including blood count, renal function, electroencephalogram, cerebral MRI and serum testosterone levels, were within normal limits. His scores on Wechsler Scale were 77 on performance, 86 on verbal and 83 on full scale.
DISCUSSION
In this case, we presented a KS who presented with antisocial personality disorder and related disorders which are ADHD, conduct disorder and alcoholism. The common feature of all these disorders is that they may be associated with X-linked chromosomes.
Many KS men are not significantly affected. On the other hand, for some the presence of an extra X chromosome is associated with cognitive, psychosocial, motor and language deficits. The presence of an extra X chromosome in KS is associated with the abnormal development of both grey and white matter in the frontal and temporal lobes. Because individuals with KS show cognitive deficits even before puberty, at a time when testosterone levels are near normal (7), it is unlikely that the profile results from androgenic insufficiency affecting neural development. However, there are anecdotal studies that testosterone supplementation leads to better grey matter preservation in the superior temporal gyrus (8).
KS is associated with multiple psychiatric comorbidities. McDanal et al. (9) had demonstrated that presentation of mixed emotional and behavioral clinical picture is similar to and difficult to distinguish from that of other child psychiatric disorders. Caroff (10) observed that individuals with KS often had a passive-aggressive constitution. He also reported that KS is also associated with schizophrenia, neurologic syndromes, mental retardation, personality disorders, paraphilia, criminality and alcoholism. Recent studies on the genetics of alcoholism have suggested an association between antisocial behaviors and the MAO-A gene. Saito et al. (11) found that the MAO-A promoter polymorphism was present in 3% of type 2 alcoholics. They suggest that MAO-A is X linked, the heterozygotes are probable cases of KS suggesting that X-chromosome aneuploidy may increase the risk for developing type 2 alcoholism (11). Previous studies consistently demonstrate that for men, and probably for women, a history of conduct disorder in childhood and adulthood predisposes one to develop an alcohol use problem (12). Previous reports also have shown that alcoholism with antisocial personality disorder is characterized by an early onset of alcohol-related problems and increased severity of dependence (13). Brunner et al. (14) reported a Dutch family with a complete MAO-A deficiency due to a point mutation in exon 8 of the MAO-A gene, and the male family members displayed abnormal aggressive behavior and borderline mental retardation.
In conclusion, KS may be presented with a personality disorder as much as various other psychiatric disorders. Healthcare professionals can play an important role to prevent and manage worsening of the psychiatric symptoms.
REFERENCES
1. Turriff A, Levy HP, Biesecker B. Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome. Genet Med 2011; 13:966-972.
2. Bruining H, Swaab H, Kas M, van Engeland H. Psychiatric characteristics in a self selected sample of boys with Klinefelter syndrome. Pediatrics 2009; 123:865-870.
3. DeLisi LE, Friedrich U, Wahlstrom J, Boccio-Smith A, Forsman A, Eklund K, Crow TJ. Schizophrenia and sex chromosome anomalies. Schizophr Bull 1994; 20:495-505.
4. Bojesen A, Juul S, Birkebaek NH, Gravholt CH. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 2006; 91:1254-1260.
5. Boks MP, de Vette MH, Sommer IE, van Rijn S, Giltay JC, Swaab H, Kahn RS. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Schizophr Res 2007; 93:399-402.
6. Sharma TR, Shah CH, Hartman DW. Case of borderline personality disorder in a 23 year old male with history of Klinefelter syndrome. Asian J Psychiatr 2012; 5:200-201.
7
The Grinch, who is bitter and cave-dwelling creature, lives on the snowy Mount Crumpits, a 10,000 foot high mountain that is north of Whoville. His age is undisclosed but he looks to be in his 40’s and does not have a job. He normally spends a lot of his time being alone in his cave. The patient appears to be suffering from antisocial personality disorder with depressed mood. There was no background history on his family, as he was abandoned as a child. The Grinch was taken in by two ladies who treated him like he was their own like every other Who children with love for Christmas. He does not have any social relationship with his friends and family. The only social companion the Grinch has is his dog Max. There was no history of drug or alcohol use. The Grinch did have some life difficulties when he was a little boy being made fun of the way he looks at his school. The Grinch had no goal in his life except to stop Christmas from happening. The coping skills and weakness was to run away from his problems and leave the town, rather than facing problems.
Description of the Problem
The Grinch displays a number of problems. The Grinch was not a very happy man with life. He hated Christmas and wanted to stop it from happening. When he was little, he got irritated and aggressive at the school because he was being made fun of by the fat boy who now is the mayor of the town. The Grinch threw a fit and picked up the Christmas tree and threw it to the other side of the classroom. After that he no longer liked Christmas. Years and years later the Grinch decided that he was going to stop Christmas from happening. He decided to dress as Santa Claus and take away all the Christmas trees and presents from the people of Whoville. He failed to plan ahead to know what the consequences would be. As he went to Cindy Lou Who’s house to steal their tree and present, Cindy Lou asked him why he was taking the Christmas tree. He told her that he going take the tree to his place and fix the light bulb. The Grinch did not show any remorse of what he did. He wanted Christmas to be over. He also did not care for the safety of other including his dog. His dog had to be the reindeer. The Grinch was irresponsible and thinking recklessly. He wanted everyone miserable and thought that would make him feel better.
Diagnosis
The diagnosis that seems appropriate for the Grinch is Antisocial Personality Disorder (301.7).
A. There is a pervasive pattern of disregard for and violation of the rights of others occurring since age 15 years, as indicated by three (or more) of the following:
1. failure to conform to social norms with respect to lawful behaviors as indicated by repeatedly performing acts that are groups for arrest
He would have gotten big trouble for stealing all the trees and presents. Also he got in trouble by getting peoples mails in the wrong box. The Grinch did not realize there are consequences.
2. deceitfulness, as indicated by repeated lying, use of aliases, or conning others for personal profit or pleasure
The Grinch lied to the little girl why he was stealing her Christmas tree and that he pretend to be a Santa.
3. impulsive behavior or failure to plan ahead
He failed to plan ahead thinking he would not run into someone while stealing Christmas tree and present. The Grinch did not think what would happen if he did this.
4. irritability and aggressiveness, as indicated by repeated physical fights or assaults
The Grinch was irritated by being made fun of the fat boy. He got aggressive and picked up the Christmas tree and threw it across the room.
5. reckless disregard for safety of self or others
He did care for other people safety especially his dog max. He made his dog do something big than his dog can really do and that it could hurt him.
6. consistent irresponsibility, as indicated by repeated failure to sustain consistent work behavior or honor financial obligations
He was being irresponsible for what he did. He wanted to make people made and not care about anyone. He was irresponsible with his dog and didn’t care if his dog got hurt or not.
7. lack of remorse, as indicated by being indifferent to or rationalizing having hurt, mistreated, or stolen from another
The Grinch had no regrets in what he had done. He didn’t regret what he did to those people. The Grinch was happy to make people unhappy and more.
B. The individual is at least age 18 years.
The Grinch is around in his 40’s.
C. There is evidence of Conduct Disorder with onset before age 15 years.
The Grinch shows evidence of having conduct disorder with the onset before age 15. He first started showing symptoms around when he was 8-10 years old.
D. The occurrence of antisocial behavior is not exclusively during the course of Schizophrenia or a Manic Episode.
During observation, the Grinch did not meet any signs showing schizophrenia but he was showing some of the signs of having a manic episode such as increased in goal-direct activities. The Grinch was very into making everyone’s Christmas miserable.
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Case of Klinefelter’s syndrome in an 18 year old male presented with antisocial personality disorder
Bilge Burcak Annagur, Ali Kandeger
Full Text
Article No: 9 Article Type : Case Report
Klinefelter’s syndrome (KS) is the most common chromosomal aberration among men and is associated with multiple psychiatric comorbidities. Individuals with KS have an increased prevalence of psychiatric disturbances, ranging from attention deficit and hyperactivity disorder (ADHD) in childhood to schizophrenia and severe affective disorders during adulthood. We want to present a case report of KS who presented with antisocial personality disorder and related disorders which are ADHD, conduct disorder and alcoholism. The common feature of all these disorders may be associated with X-linked chromosomes.
Keywords : Antisocial personality disorder, Klinefelter’s syndrome
Dusunen Adam : The Journal of Psychiatry and Neurological Sciences : 2014;27:254-256
Full Text:
INTRODUCTION
Klinefelter’s syndrome (KS, 47, XXY) is the most common chromosomal aberration among men and the incidence of the syndrome is 2.0 per 1,000 live-born males. The physical and cognitive phenotype associated with XXY is highly variable. Individuals with XXY may have hypogonadism, fertility problems, tall stature, gynecomastia, language based learning disabilities, and disorders of executive function (1).
Previous research has raised concerns that individuals with KS have an increased prevalence of psychiatric disturbances, ranging from attention deficit hyperactivity disorder (ADHD) in childhood to schizophrenia and severe affective disorders during adulthood (2). 47, XXY aneuploidy is found in about 0.8-1% of men hospitalized for schizophrenia, representing a four-fold to five-fold excess over the incidence at birth of KS (3). A survey of hospital admissions and discharge diagnoses among individuals with XXY in Denmark (n=832) and a randomly selected age-matched control group (n=4033) found that individuals with XXY had an increased relative risk of being hospitalized for psychiatric disorder, particularly for psychoses (4). A psychiatric screening of 31 adults with XXY showed an increased prevalence of psychosis (6.5%) and depression (19.4%) (5).
Bruining et al. (2) found that language disorder 65% as the most prevalent disorder followed by ADHD (63%) and autism spectrum disorder (27%) in this syndrome. Behavioral impairment was most evident among cases classified as autism spectrum disorder and psychotic disorder 12%. Although there are much reports regarding to KS associated with psychiatric disorders in literature, there are limited reports regarding to personality traits (6). We want to present a case report of KS who presented with antisocial personality disorder.
CASE
A 17 year-old boy was admitted to the Emergency Department because of aggressive behavior, substance use and self mutilation. Upon presentation to the emergency room, he described his mood as “out of temper” with sleep disturbances. He reported having difficulty in maintaining interpersonal relationships. He denied significantly depressed mood. He also stated that he got nervous from time to time but denied any symptoms of generalized anxiety disorder, post-traumatic stress disorder, obsessive-compulsive disorder or panic disorder. He reported that he felt paranoid while in a stressful situation but denied any auditory or visual disturbances or paranoia during that encounter.
He started drinking alcohol when he was 8 years old, and he started to use cannabis when he was 11 years old. He had impulsive behaviors since childhood. He reported that he had multiple self-inflicted injuries. He added that he had legal problems due to fights at school. His past psychiatric history was significant for a diagnosis of ADHD and conduct disorder. He was started on methylphenidate 20mg two times a day for ADHD when he was 8 years old but he could not tolerate and did not use it. His grandfather has schizophrenia. He had significant dysphoric mood in mental status examination. Physical examination indicated that he is a tall (200cm) and overweight (110kg) boy with long arms and legs. His blood pressure and his heart rate were normal. There were no withdrawal symptoms. We thought of Klinefelter’s syndrome due to his physical appearance. Cytogenetic studies showed a 47, XXY karyotype. All other investigations, including blood count, renal function, electroencephalogram, cerebral MRI and serum testosterone levels, were within normal limits. His scores on Wechsler Scale were 77 on performance, 86 on verbal and 83 on full scale.
DISCUSSION
In this case, we presented a KS who presented with antisocial personality disorder and related disorders which are ADHD, conduct disorder and alcoholism. The common feature of all these disorders is that they may be associated with X-linked chromosomes.
Many KS men are not significantly affected. On the other hand, for some the presence of an extra X chromosome is associated with cognitive, psychosocial, motor and language deficits. The presence of an extra X chromosome in KS is associated with the abnormal development of both grey and white matter in the frontal and temporal lobes. Because individuals with KS show cognitive deficits even before puberty, at a time when testosterone levels are near normal (7), it is unlikely that the profile results from androgenic insufficiency affecting neural development. However, there are anecdotal studies that testosterone supplementation leads to better grey matter preservation in the superior temporal gyrus (8).
KS is associated with multiple psychiatric comorbidities. McDanal et al. (9) had demonstrated that presentation of mixed emotional and behavioral clinical picture is similar to and difficult to distinguish from that of other child psychiatric disorders. Caroff (10) observed that individuals with KS often had a passive-aggressive constitution. He also reported that KS is also associated with schizophrenia, neurologic syndromes, mental retardation, personality disorders, paraphilia, criminality and alcoholism. Recent studies on the genetics of alcoholism have suggested an association between antisocial behaviors and the MAO-A gene. Saito et al. (11) found that the MAO-A promoter polymorphism was present in 3% of type 2 alcoholics. They suggest that MAO-A is X linked, the heterozygotes are probable cases of KS suggesting that X-chromosome aneuploidy may increase the risk for developing type 2 alcoholism (11). Previous studies consistently demonstrate that for men, and probably for women, a history of conduct disorder in childhood and adulthood predisposes one to develop an alcohol use problem (12). Previous reports also have shown that alcoholism with antisocial personality disorder is characterized by an early onset of alcohol-related problems and increased severity of dependence (13). Brunner et al. (14) reported a Dutch family with a complete MAO-A deficiency due to a point mutation in exon 8 of the MAO-A gene, and the male family members displayed abnormal aggressive behavior and borderline mental retardation.
In conclusion, KS may be presented with a personality disorder as much as various other psychiatric disorders. Healthcare professionals can play an important role to prevent and manage worsening of the psychiatric symptoms.
REFERENCES
1. Turriff A, Levy HP, Biesecker B. Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome. Genet Med 2011; 13:966-972.
2. Bruining H, Swaab H, Kas M, van Engeland H. Psychiatric characteristics in a self selected sample of boys with Klinefelter syndrome. Pediatrics 2009; 123:865-870.
3. DeLisi LE, Friedrich U, Wahlstrom J, Boccio-Smith A, Forsman A, Eklund K, Crow TJ. Schizophrenia and sex chromosome anomalies. Schizophr Bull 1994; 20:495-505.
4. Bojesen A, Juul S, Birkebaek NH, Gravholt CH. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 2006; 91:1254-1260.
5. Boks MP, de Vette MH, Sommer IE, van Rijn S, Giltay JC, Swaab H, Kahn RS. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Schizophr Res 2007; 93:399-402.
6. Sharma TR, Shah CH, Hartman DW. Case of borderline personality disorder in a 23 year old male with history of Klinefelter syndrome. Asian J Psychiatr 2012; 5:200-201.
7
The Grinch, who is bitter and cave-dwelling creature, lives on the snowy Mount Crumpits, a 10,000 foot high mountain that is north of Whoville. His age is undisclosed but he looks to be in his 40’s and does not have a job. He normally spends a lot of his time being alone in his cave. The patient appears to be suffering from antisocial personality disorder with depressed mood. There was no background history on his family, as he was abandoned as a child. The Grinch was taken in by two ladies who treated him like he was their own like every other Who children with love for Christmas. He does not have any social relationship with his friends and family. The only social companion the Grinch has is his dog Max. There was no history of drug or alcohol use. The Grinch did have some life difficulties when he was a little boy being made fun of the way he looks at his school. The Grinch had no goal in his life except to stop Christmas from happening. The coping skills and weakness was to run away from his problems and leave the town, rather than facing problems.
Description of the Problem
The Grinch displays a number of problems. The Grinch was not a very happy man with life. He hated Christmas and wanted to stop it from happening. When he was little, he got irritated and aggressive at the school because he was being made fun of by the fat boy who now is the mayor of the town. The Grinch threw a fit and picked up the Christmas tree and threw it to the other side of the classroom. After that he no longer liked Christmas. Years and years later the Grinch decided that he was going to stop Christmas from happening. He decided to dress as Santa Claus and take away all the Christmas trees and presents from the people of Whoville. He failed to plan ahead to know what the consequences would be. As he went to Cindy Lou Who’s house to steal their tree and present, Cindy Lou asked him why he was taking the Christmas tree. He told her that he going take the tree to his place and fix the light bulb. The Grinch did not show any remorse of what he did. He wanted Christmas to be over. He also did not care for the safety of other including his dog. His dog had to be the reindeer. The Grinch was irresponsible and thinking recklessly. He wanted everyone miserable and thought that would make him feel better.
Diagnosis
The diagnosis that seems appropriate for the Grinch is Antisocial Personality Disorder (301.7).
A. There is a pervasive pattern of disregard for and violation of the rights of others occurring since age 15 years, as indicated by three (or more) of the following:
1. failure to conform to social norms with respect to lawful behaviors as indicated by repeatedly performing acts that are groups for arrest
He would have gotten big trouble for stealing all the trees and presents. Also he got in trouble by getting peoples mails in the wrong box. The Grinch did not realize there are consequences.
2. deceitfulness, as indicated by repeated lying, use of aliases, or conning others for personal profit or pleasure
The Grinch lied to the little girl why he was stealing her Christmas tree and that he pretend to be a Santa.
3. impulsive behavior or failure to plan ahead
He failed to plan ahead thinking he would not run into someone while stealing Christmas tree and present. The Grinch did not think what would happen if he did this.
4. irritability and aggressiveness, as indicated by repeated physical fights or assaults
The Grinch was irritated by being made fun of the fat boy. He got aggressive and picked up the Christmas tree and threw it across the room.
5. reckless disregard for safety of self or others
He did care for other people safety especially his dog max. He made his dog do something big than his dog can really do and that it could hurt him.
6. consistent irresponsibility, as indicated by repeated failure to sustain consistent work behavior or honor financial obligations
He was being irresponsible for what he did. He wanted to make people made and not care about anyone. He was irresponsible with his dog and didn’t care if his dog got hurt or not.
7. lack of remorse, as indicated by being indifferent to or rationalizing having hurt, mistreated, or stolen from another
The Grinch had no regrets in what he had done. He didn’t regret what he did to those people. The Grinch was happy to make people unhappy and more.
B. The individual is at least age 18 years.
The Grinch is around in his 40’s.
C. There is evidence of Conduct Disorder with onset before age 15 years.
The Grinch shows evidence of having conduct disorder with the onset before age 15. He first started showing symptoms around when he was 8-10 years old.
D. The occurrence of antisocial behavior is not exclusively during the course of Schizophrenia or a Manic Episode.
During observation, the Grinch did not meet any signs showing schizophrenia but he was showing some of the signs of having a manic episode such as increased in goal-direct activities. The Grinch was very into making everyone’s Christmas miserable.
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