. | . | 47,XXX . | . | TD females . | Statistic . | . |
---|---|---|---|---|---|---|
Age | 21 | 30.10 (11.88) | 22 | 33.82 (12.38) | U = 277 | 0.2682 |
FSIQ | 21 | 85.81 (10.44) | 22 | 99.73 (12.32) | t = 3.99 | |
VIQ | 21 | 80.81 (12.34) | 22 | 95.18 (12.96) | t = 3.72 | |
PIQ | 21 | 87.67 (14.53) | 22 | 102.82 (18.00) | t = 3.03 |
Numbers in bold reflect significant between group differences. TD, typically developing; FSIQ, full-scale intelligence quotient; VIQ, verbal intelligence quotient; PIQ, performance intelligence quotient.
a No significant difference between VIQ and PIQ in either 47,XXX or 46,XX (typically developing females).
Social cognition and SRS-A T-scores are summarized in Table 2 . Individuals with 47,XXX had significantly lower ERT scores compared to age-matched typically developing females. Women with 47,XXX scored significantly higher on 3 SRS-A subscales: social awareness, social communication, and social motivation, as well as on total SRS-A score. There was no significant difference between groups in score of SRS-A subscale rigidity and repetitive behavior.
Between-group differences in social cognition and social responsiveness.
. | . | 47,XXX . | . | TD females . | Statistic . | . |
---|---|---|---|---|---|---|
ERT score | 21 | 101.33 (17.56) | 22 | 119.59 (14.05) | = 3.77 | |
Social awareness score | 20 | 56.85 (10.73) | 22 | 49.36 (11.24) | = −2.20 | |
Social communication score | 20 | 55.85 (7.89) | 22 | 46.86 (7.82) | = −3.71 | |
Social motivation score | 20 | 54.75 (8.08) | 22 | 45.64 (7.34) | U = 87.5 | |
Rigidity and repetitive behavior score | 20 | 53.50 (9.70) | 22 | 48.86 (10.45) | U = 152.5 | 0.090 |
Social functioning total score | 20 | 56.05 (8.02) | 22 | 47.32 (9.47) | = −3.21 |
. | . | 47,XXX . | . | TD females . | Statistic . | . |
---|---|---|---|---|---|---|
ERT score | 21 | 101.33 (17.56) | 22 | 119.59 (14.05) | = 3.77 | |
Social awareness score | 20 | 56.85 (10.73) | 22 | 49.36 (11.24) | = −2.20 | |
Social communication score | 20 | 55.85 (7.89) | 22 | 46.86 (7.82) | = −3.71 | |
Social motivation score | 20 | 54.75 (8.08) | 22 | 45.64 (7.34) | U = 87.5 | |
Rigidity and repetitive behavior score | 20 | 53.50 (9.70) | 22 | 48.86 (10.45) | U = 152.5 | 0.090 |
Social functioning total score | 20 | 56.05 (8.02) | 22 | 47.32 (9.47) | = −3.21 |
Numbers in bold reflect significant between group differences. TD, typically developing; ERT, emotion recognition task.
Laminar analyses applied to T1 maps showed significantly higher mean T1 in lamina 9 of the banks of the superior temporal sulcus (Cohen’s d = 0.745) of the left hemisphere, as well as higher mean T1 in laminae 8 and 9 of the banks of the superior temporal sulcus (Cohen’s d = 0.924; 1.038 respectively) of the right hemisphere in 47,XXX compared to typically developing females ( Table 3 and Fig. 1A and B ). In addition, 47,XXX subjects showed higher mean T1 in laminae 7 and 8 of the inferior temporal gyrus (Cohen’s d = 0.709; 0.779, respectively) of the right hemisphere compared to typically developing females ( Table 3 and Fig. 1C ).
Results for mean T1 map values of significant regions of interest in 47,XXX compared to typically developing females.
. | . | . | . | . | . | . | . |
---|---|---|---|---|---|---|---|
Banks superior temporal sulcus | Left | 9 | 0.745 | 0.316 | 0.126 | 1.365 | 0.019 |
Banks superior temporal sulcus | Right | 8 9 | 0.924 1.038 | 0.322 0.326 | 0.294 0.399 | 1.555 1.676 | 0.004 0.002 |
Inferior temporal gyrus | Right | 7 8 | 0.709 0.779 | 0.315 0.317 | 0.091 0.157 | 1.326 1.400 | 0.025 0.015 |
. | . | . | . | . | . | . | . |
---|---|---|---|---|---|---|---|
Banks superior temporal sulcus | Left | 9 | 0.745 | 0.316 | 0.126 | 1.365 | 0.019 |
Banks superior temporal sulcus | Right | 8 9 | 0.924 1.038 | 0.322 0.326 | 0.294 0.399 | 1.555 1.676 | 0.004 0.002 |
Inferior temporal gyrus | Right | 7 8 | 0.709 0.779 | 0.315 0.317 | 0.091 0.157 | 1.326 1.400 | 0.025 0.015 |
TD, typically developing.
Original T1 maps, corrected T1 maps, equivolume laminae projected on corrected T1 maps, and intracortical laminae T1 profiles of 47,XXX and typically developing (TD) females of a) banks of the superior temporal sulcus of the left hemisphere, b) banks of the superior temporal sulcus of the right hemisphere and c) inferior temporal gyrus of the right hemisphere. Intracortical laminae T1 profiles show mean T1 (ms) values and standard deviations for intracortical (gray matter) laminae 1 to 9, with lamina 1 closest to the white matter/gray matter boundary and lamina 9 closest to the gray matter/cerebrospinal fluid boundary. WM: white matter; GM: gray matter; CSF: cerebrospinal fluid; WM/GMB: white matter/gray matter boundary; GM/CSFB: gray matter/cerebrospinal fluid boundary.
We found significant positive correlations between mean T1 values in lamina 7 of the right hemisphere inferior temporal gyrus and social awareness scores ( r = 0.496, P = 0.026), social communication scores ( r = 0.512, P = 0.021), social motivation scores ( r = 0.489, P = 0.029), and social functioning total scores ( r = 0.581, P = 0.007) within individuals with 47,XXX, but not in typically developing females. In addition, we found significant positive correlations between mean T1 values in lamina 8 of the right hemisphere inferior temporal gyrus and social awareness scores ( r = 0.466, P = 0.038), social communication scores ( r = 0.513, P = 0.021), social motivation scores ( r = 0.470, P = 0.037), and social functioning total scores ( r = 0.560, P = 0.010) within individuals with 47,XXX, but not in typically developing females. However, only the positive correlation between lamina 7 mean T1 of the inferior temporal gyrus of the right hemisphere and social functioning total scores did survive correction for multiple comparisons [ P = 0.002; = 0.05/5 (laminae) × 5 (social cognition and social functioning tasks)]. Correlations between T1 values and IQ and ERT scores were not present in 47,XXX.
To the best of our knowledge, this is the first MRI study investigating ICM in 47,XXX using ultra-high field 7 T structural MRI. Using laminar analyses applied to quantitative T1 maps, we demonstrated significantly lower ICM across supragranular laminae in 47,XXX bilaterally in the banks of the superior temporal sulcus and in the right inferior temporal gyrus. Moreover, better social functioning was associated with larger ICM in supragranular laminae of the right inferior temporal gyrus in adult individuals with 47,XXX.
We reported significantly higher T1 across supragranular cortical laminae in 47,XXX bilaterally in the banks of the superior temporal sulcus and in the inferior temporal gyrus of the right hemisphere with high effect sizes, possibly indicating less ICM content in these cortical gray matter structures. Given that intracortical T1 values of these cortical brain regions are within the expected range of gray matter T1 at 7 T ( Kashyap et al. 2018 ; Sanchez Panchuelo et al. 2021 ; Gulban et al. 2022 ), there is no possibility of potentially having sampled nongray matter tissue (e.g. cerebrospinal fluid) in these supragranular cortical laminae. Based on findings of previous neuroimaging studies, the superior temporal sulcus is associated with speech, language processing, and social cognition ( Redcay 2008 ; Saitovitch et al. 2012 ; Specht and Wigglesworth 2018 ; Wilson et al. 2018 ; Nourski et al. 2021 ), and the inferior temporal gyrus is associated with visual information processing, language, emotion regulation, and social cognition ( Lin et al. 2020 ; Balgova et al. 2022 ). Myelination of axons, which increases the speed of signal transmission between neurons and facilitates information integration, has been found to play a key role in the development of many aspects of cognition, including language ability and social cognition ( O'Muircheartaigh et al. 2014 ), and alterations in cortical myelin have been demonstrated in patients with depressive disorders ( Baranger et al. 2021 ; Zhang et al. 2023 ), bipolar disorder ( Suh et al. 2023 ), schizophrenia ( Wei et al. 2020 ), Alzheimer’s disease ( Pelkmans et al. 2019 ), and multiple sclerosis ( Mangeat et al. 2018 ; Barletta et al. 2021 ). Therefore, abnormalities in myelin can lead to dysregulation of neuronal circuits and may (partially) underly the behavioral phenotype associated with 47,XXX. Speech, language, and visual information processing abilities of 47,XXX individuals were not assessed in the current study. However, speech and language deficits have previously been described in children and adolescents with 47,XXX ( Leggett et al. 2010 ; Urbanus et al. 2021 ; Capelli et al. 2023 ). Using macromolecular proton fraction as a marker of myelin, significant positive correlations between early language skills and myelin density were shown in typically developing toddlers in gray matter of frontal, parietal, and temporal lobes using neuroimaging data ( Corrigan et al. 2022 ). Therefore, more research is necessary to investigate the contribution of altered superior temporal sulcus and inferior temporal gyrus ICM content across laminae to speech and language problems in 47,XXX.
Although our results showed significantly worse scores on social cognition (ERT) in adults with 47,XXX compared to typically developing females, we did not show any significant associations between ERT scores and T1 across laminae in the superior temporal sulcus or inferior temporal gyrus in 47,XXX. However, other aspects of social cognition, including theory of mind and joint attention, were not assessed in the present study. Therefore, future studies are necessary to investigate potential relationships between other aspects of social cognition and altered ICM in the superior temporal sulcus and inferior temporal gyrus in adult individuals with 47,XXX. Nevertheless, we reported a significant positive correlation between inferior temporal gyrus intracortical T1 and total social functioning scores in 47,XXX, indicating that higher social functioning in 47,XXX is related to larger ICM content. A previous study investigating ICM trajectories of social–emotional brain regions, including the superior temporal sulcus, in typically developing toddlers using the myelin water fraction reported a steep increase in ICM content in delineated brain regions throughout the first 3 years of life ( Schneider et al. 2021 ). Moreover, they showed a significant correlation between this pattern of myelination and their social–emotional development as observed and rated by parents ( Schneider et al. 2021 ). In addition, social cognitive training in typically developing individuals was associated with decreases in T1 in superficial depths in the parietal and temporal cortices and sensory-motor areas ( Valk et al. 2023 ). Previous studies in individuals with psychiatric disorders have not directly related ICM to social functioning or social cognition. Therefore, more research is necessary to investigate the contribution of altered ICM in the superior temporal sulcus and inferior temporal gyrus to social functioning and social cognition in 47,XXX.
Alterations of ICM in the temporal cortex as reported here in 47,XXX have also been shown in individuals with schizophrenia. More specifically, increases in ICM were shown in supragranular laminae of the parietal–temporal cortex including the supramarginal and superior temporal gyri in individuals with schizophrenia compared to typically developing individuals ( Wei et al. 2020 ). Psychotic symptoms and psychotic disorders have been reported in individuals with 47,XXX ( Otter et al. 2010 ; Green et al. 2018 ; Otter et al. 2022 ). Thus, these results may indicate potentially shared neurodevelopmental pathways contributing to the 47,XXX phenotype and idiopathic psychotic disorders. Alterations in brain morphology and brain function in the superior temporal sulcus ( Boddaert et al. 2004 ; Redcay 2008 ; Saitovitch et al. 2012 ; Nomi and Uddin 2015 ) and inferior temporal gyrus ( Cai et al. 2018 ; Kim et al. 2021 ) have previously also been reported in individuals with ASD. Yet, most of these studies have focused disproportionately on males with ASD rather than females with ASD. However, these parallels in altered brain (micro)structure and brain function between individuals with 47,XXX and those with ASD may suggest potentially shared neurodevelopmental pathways underlying both conditions. Nevertheless, an investigation of ICM in young children with ASD using the T1w/T2w ratio as an estimate of ICM content found no significant differences between individuals with ASD and typically developing children, also not while controlling for sex ( Chen et al. 2022 ). Yet, children with ASD showed altered developmental timing of myelination across several posterior cortical regions ( Chen et al. 2022 ). This alteration may suggest long-term effects that may manifest as differences in ICM in adulthood in ASD. It might be interesting for future studies to compare ICM across laminae using T1 between individuals with 47,XXX with and without ASD across different developmental periods. Unfortunately, we could not examine these potential differences as a result of an insufficient sample size resulting in decreased power to detect statistically significant differences between individuals with 47,XXX with and without ASD.
In a previous study using a largely overlapping sample, we showed smaller subcortical nuclei volumes and lower surface area in the superior temporal gyrus and superior frontal gyrus of the right hemisphere in adult women with 47,XXX ( Serrarens et al. 2022 ). Here, we demonstrate altered ICM across supragranular laminae bilaterally in the banks of the superior temporal sulcus, which separates the superior temporal gyrus from the middle temporal gyrus. It has been hypothesized that surface area and ICM are neurodevelopmentally related ( Cafiero et al. 2019 ). Although we did not observe significant differences in surface area of the banks of the superior temporal sulcus in 47,XXX in our previous study, further investigation is warranted to investigate the potential relationship between ICM and surface area in 47,XXX.
The deeper layers of the cortex closer to the white matter boundary are generally the most heavily myelinated and have an MRI signal that is distinct from the signal in the superficial gray matter, which has fewer myelinated fibers ( Rowley et al. 2015 ). Yet, here we showed ICM alterations in superficial cortical laminae of the superior temporal sulcus and inferior temporal gyrus in 47,XXX. Given that superficial cortical laminae tend to contain the supragranular layers that are rich in feed-forward sensory connections on pyramidal neurons and contain neurons that project their axons to other cortical areas of the same hemisphere (associative), decreased myelination in 47,XXX may lead to disrupted neuronal connectivity with other cortical regions ( Wei et al. 2020 ). ICM content in deeper cortical laminae (infragranular) of the superior temporal sulcus and inferior temporal gyrus was not statistically altered in individuals with 47,XXX. However, medium effect sizes were observed for deeper cortical laminae in the banks of the superior temporal sulcus and the inferior temporal gyrus in the right hemisphere, also showing higher T1 values in 47,XXX compared to typically developing females. Decreasing T1 value trajectories were observed from supragranular to infragranular laminae, trajectories that are comparable to the results of previous studies using T1 map values ( Tardif et al. 2015 ; Waehnert et al. 2016 ; Sprooten et al. 2019 ; Gulban et al. 2022 ). Future studies including larger sample sizes are required to further investigate ICM in deeper cortical laminae in the superior temporal sulcus and inferior temporal gyrus in 47,XXX.
Using diffusion tensor imaging data, X chromosome dosage effects on white matter microstructure were previously shown in individuals with 45,X0 ( Molko et al. 2004 ; Holzapfel et al. 2006 ; Yamagata et al. 2011 ; Xie et al. 2015 ) and 47,XXY ( Goddard et al. 2015 ). Altered radial diffusivity, which is an indirect measure of white matter myelination, was reported in children with 45,X0 in widespread white matter regions and tracts ( Yamagata et al. 2011 ). Additionally, children and adolescents with 47,XXY showed altered radial diffusivity in the anterior corona radiata and sagittal striatum ( Goddard et al. 2015 ). Combined, these results suggest X chromosome dosage effects on white matter microstructure across the lifespan. The results in 47,XXX presented here increase our understanding of X chromosome dosage effects on gray matter microstructure, more specifically on ICM across laminae. However, comparison data from structural MRI studies investigating ICM in other SCAs, including 45,X0 and 47,XXY, are currently not available. To elucidate the direct impact of X chromosome dosage on ICM across laminae in more depth, future studies including a more diverse group of SCAs are required. Moreover, longitudinal studies investigating ICM across laminae in SCAs, including 47,XXX, across developmental trajectories are warranted.
Our study is the first to investigate ICM across laminae in individuals with 47,XXX. Our work in 47,XXX presented here offers a better understanding of how X chromosome dosage impacts ICM. Another important strength of this study is the use of ultra-high field 7 T MRI data. MRI at 7 T offers increased signal-to-noise ratio and increased contrast-to-noise ratio compared to 3 T MRI, allowing imaging with submillimeter spatial resolutions and mapping of laminar profiles, improving the delineation of anatomical structures, providing clearer tissue boundaries which results in improved segmentation accuracy and minimizing partial volume effects ( Marques et al. 2010 ; Choi et al. 2011 ; Bahrami et al. 2017 ; Vachha and Huang 2021 ). In addition, our study is the first to examine relationships between ICM across laminae and IQ, and social cognition and social functioning in 47,XXX. Despite the strong merits and novelty of our study, some limitations should be mentioned as well. First, our sample size was relatively small, resulting in decreased power to detect statistically significant differences. When having a small sample size, P values are particularly vulnerable to small deviations in the number of outcomes ( Mitani and Haneuse 2020 ). Since this is the first explorative study investigating intracortical myelin across laminae in 47,XXX, we chose to be comprehensive and report statistical significance at P < 0.025 (corrected for the number of hemispheres). The relatively small sample size could be a potential explanation for our not observing alterations in ICM across deeper laminae of the banks of the superior temporal sulcus and the inferior temporal gyrus. However, 47,XXX is considered an underrepresented and understudied population ( Tuke et al. 2019 ). Given the variability in clinical phenotype and the assumption that many individuals with 47,XXX are not clinically diagnosed, recruitment of large sample sizes is difficult and requires international collaborative consortia. Ascertainment bias is also a well-known limitation in research in genetic disorders in general. This also applies to 47,XXX studies as patients presenting more severe phenotypes are more likely to be clinically diagnosed, and recognized and enrolled in research. Therefore, our sample may not be representative of all individuals with 47,XXX. Moreover, the cross-sectional nature of our data makes it difficult to assess possible age-varying patterns of ICM across laminae in 47,XXX, stressing the need for longitudinal studies investigating ICM across laminae and its potential relationships with clinical symptoms in 47,XXX. Individuals with 47,XXX had a confirmed 47,XXX diagnosis through DNA testing, which was verified by their general practitioner. However, genetic/genomic information was not collected for this study. Therefore, future studies are necessary to investigate the effect of these factors on intracortical myelin in 47,XXX. While X chromosome dosage effects on ICM across laminae were elucidated in 47,XXX at adult age, alterations in brain structure may also be the result of indirect sex hormonal effects. Sex hormone levels in 47,XXX are usually normal, but were not investigated in this study, and therefore, future research is warranted. We acknowledge the inherent limitation that T1 values do not directly represent myelin concentrations, but rather serve as a close approximation. T1 values are also influenced by other factors, such as iron or susceptibility. However, work by Stüber ( Stüber et al. 2014 ) suggests that the value of T1 within the cortex is mostly dominated by myelin content. In laminar analysis using MRI, cortical laminae that are used to calculate laminar profiles do not directly correspond to cytoarchitectonic layers (in a histological sense). The geometrical depth might not consistently align with a cortical lamina based on cytoarchitecture across regions or individuals, as demonstrated by variations in laminar volumes along functional gradients by Wagstyl and colleagues ( Wagstyl et al. 2020 ). Lastly, 7 T MRI is fraught with challenges posed by transmit field (B1 + )-related inhomogeneities that need to be corrected using additionally acquired data and/or image processing. In the present study, we were able to correct quantitative T1 map images for B1 + inhomogeneities in postprocessing using a dedicated B1 + acquisition. Future studies can consider employing methods outlined here or recent advances in MR acquisition methods like pTx and Universal Pulses to remediate some of these issues associated with imaging inhomogeneities ( Gras et al. 2016 ; Choi et al. 2024 ).
In conclusion, our results indicate an effect of a supernumerary X chromosome in adult-aged women on ICM across supragranular laminae of the banks of the superior temporal sulcus, and the inferior temporal gyrus. These findings provide insight into the role of X chromosome dosage on ICM across laminae. Future research is warranted to further explore the functional significance of altered ICM across laminae in 47,XXX.
We would like to thank all the women for participating in this study. We would also like to thank Truda Driesen for coordinating the study.
Chaira Serrarens (Data curation, Formal analysis, Methodology, Software, Visualization, Writing—original draft, Writing—review & editing), Julia Ruiz-Fernandez (Data curation, Formal analysis, Methodology, Software, Writing—review & editing), Maarten Otter (Conceptualization, Investigation, Project administration, Resources, Writing—review & editing), Bea C.M. Campforts (Investigation, Project administration, Resources, Writing—review & editing), Constance T.R.M. Stumpel (Conceptualization, Project administration, Supervision, Writing—review & editing), David Linden (Supervision, Writing—review & editing), T.A.M.J. van Amelsvoort (Conceptualization, Project administration, Supervision, Writing—review & editing), Sriranga Kashyap (Formal analysis, Methodology, Software, Supervision, Visualization, Writing—original draft, Writing—review & editing), and Claudia Vingerhoets (Methodology, Supervision, Visualization, Writing—original draft, Writing—review & editing).
The work of C.S. was supported by the National Institute of Mental Health (NIMH 5U01MH119740-05). STEVIG, Oostrum, the Netherlands, contributed financially to the work of co-author M.O.
Conflict of interest statement: None declared.
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Kirstine stochholm.
1 Department of Endocrinology and Internal Medicine, Aarhus University Hospital NBG, Aarhus C, Aarhus, Denmark
2 Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, Vejle, Denmark
3 Department of Epidemiology, School of Public Health, Aarhus University, Aarhus, Denmark
Associated data.
To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population.
Register-based cohort study comparing the incidence of convictions among men with KS and with 47,XYY with age- and calendar-matched samples of the general population. Crime was classified into eight types (sexual abuse, homicide, burglary, violence, traffic, drug-related, arson and ‘others’).
Denmark 1978–2006.
All men diagnosed with KS (N=934) or 47,XYY (N=161) at risk and their age- and calendar-time-matched controls (N=88 979 and 15 356, respectively).
The incidence of convictions was increased in men with KS (omitting traffic offenses) compared to controls with a HR of 1.40 (95% CI 1.23 to 1.59, p<0.001), with significant increases in sexual abuse, burglary, arson and ‘others’, but with a decreased risk of traffic and drug-related offenses. The incidence of convictions was significantly increased among men with 47,XYY compared to controls with a HR of 1.42 (95% CI 1.14 to 1.77, p<0.005) in all crime types, except drug-related crimes and traffic. Adjusting for socioeconomic variables (education, fatherhood, retirement and cohabitation) reduced the total HR for both KS and 47,XYY to levels similar to controls, while some specific crime types (sexual abuse, arson, etc) remained increased.
The overall risk of conviction (excluding traffic offenses) was moderately increased in men with 47,XYY or KS; however, it was similar to controls when adjusting for socioeconomic parameters. Convictions for sexual abuse, burglary, arson and ‘others’ were significantly increased. The increased risk of convictions may be partly or fully explained by the poor socioeconomic conditions related to the chromosome aberrations.
Article focus.
The sex chromosome trisomies 47,XXY (Klinefelter's syndrome (KS)) and 47,XYY are the most common male sex chromosome aneuploidies compatible with live birth. KS affects 167 per 100 000 men, 1–3 while the prevalence estimates of 47,XYY are highly variable, ranging in live born men from 26 per 100 000 4 to 375 per 100 000, 5 although many are not diagnosed or diagnosed late. 6 Both KS and 47,XYY are much more frequent when studied in a tall population, 7 which is readily explained by the presence of additional copies of the SHOX gene (and possibly also other genes related to stature) in men with KS and 47,XYY. 8 As with 47,XYY, many KS are not diagnosed, and a considerable delay in diagnosis exists for those who get a diagnosis. 2
The 47,XYY sex chromosome abnormality has been described in various settings 6 9 since the first descriptions of a group of men with 47,XYY in 1965 by Jacobs et al 10 who conducted a chromosome survey of male patients at the State Hospital in Carstairs, Scotland, and found that men with the 47,XYY karyotype were particularly frequent among inmates in penal institutions. During the 1960s and 1970s, studies of persons with KS and 47,XYY identified an increased frequency in hospitals for mentally handicapped, 11 and men with 47,XYY seemed to be over-represented in prisons. 12 Several of these studies reported a general increased rate of criminal behaviour and increased crime rates among both cohorts, especially due to sexual crimes. 13 These studies were associated with selection problems as they investigated institutionalised individuals. Two relatively new studies of criminal behaviour among sex chromosome trisomies have been published. Götz et al 14 found an increased rate of criminal behaviour among persons with 47,XYY but not among persons with KS. Another study from 1988 15 linked young KS males with arson. However, both studies include a very limited number of persons. The study by Witkin et al 7 in tall persons concluded that there was no evidence of an increased crime rate among KS and 47,XYY, but again with very few study subjects. Long-term follow-up of a cohort of KS (n=19) and 47,XYY (n=19) indicated that persons with 47,XYY had a fourfold increase in convictions, mostly due to minor offenses. 16 All investigations conducted so far on this issue are limited by the study of selected groups, either institutionalised or clinic patients, in addition to methodological shortcomings, such as self-report of crimes, poorly defined definition of crime type and poorly defined control groups. All studies have also been conducted in very small groups comprising <20 persons with a chromosome abnormality. The full spectrum of all types of crime has never been reported. As mentioned, diagnosis of both syndromes is usually delayed and more than half of the expected individuals are never diagnosed, 2 6 and a more thorough knowledge of all aspects these syndromes would most likely facilitate earlier diagnosis and possibly better clinical care.
In order to examine the crime characteristics of men with KS and 47,XYY, we undertook the present nationwide study, focusing not only on the total number of convictions but also on various crime types. Thus, we investigated the criminal pattern of all men diagnosed with 47,XYY and KS compared with a large age- and calendar-time-matched control group. We compared HRs without and with adjustment for socioeconomic variables in order to assess whether any increased risk of conviction could be explained by the poorer socioeconomic conditions of men with KS and 47,XYY. Furthermore, the criminal pattern before and after the diagnosis of the chromosomal aberration was investigated.
The present study is a register-based study combining information from the Danish Cytogenetic Central Register, Statistics Denmark and the Danish Central Crime Registry.
Using the Danish Cytogenetic Central Register, we identified all men diagnosed with a karyotype compatible with KS, 47,XYY or variants thereof in Denmark by January 2009. These men are hereafter referred to as index-persons. The register was founded in 1967 and contains information regarding all cytogenetic analyses performed in Denmark since 1960, including date of diagnosis. Unique identification numbers (ID numbers) from the Civil Registration System enabled identification of every single person diagnosed with an aberrant chromosomal analysis. ID numbers are given to all Danish citizens since 1968. The ID numbers ensured a one-to-one linkage between the registries.
For each index-person, Statistics Denmark identified up to 100 age- and calendar-time-matched controls (matched on month and year of birth) from the male background population. All dates of emigration and death were retrieved. All controls were alive and living in Denmark when their index-person was diagnosed. All controls emigrated or deceased before the index-person turned 15 years were excluded.
The Danish Central Crime Register has previously been described as possibly the most thorough, comprehensive and accurate crime register in the Western world. 17 Since the register was digitalised on 1 November 1978, all charges and decisions for any reported offense in Denmark have been registered. We had access to annual information, and a person could be registered with multiple convictions the same year. We defined 1 July the relevant year as the date of the conviction. The study period was from 1 November 1978 to 31 December 2006, as 2006 was last year with available information.
In Denmark, the age of criminal responsibility is 15 years. All solved criminal acts committed by individuals born after 1 November 1963 has been registered in the crime register. We considered only persons between 15 and 70 years during the study period to be at risk of an event. We categorised the offenses into eight groups, that is, (1) sexual-related convictions including rape; (2) homicides; (3) violent convictions; (4) robbery, burglary and theft; (5) traffic offenses; (6) drug-related convictions not including violence; (7) arson and (8) ‘others’.
All convictions of an index-person or a control were retrieved from the crime register. We defined an event as the first conviction in any group and in each of the eight groups separately. Thus, only the first event was analysed, and all succeeding events in the same group were excluded.
We discriminated between events before and after the diagnosis of a chromosome aberration. Also, in order to analyse whether the conviction and the diagnosis could be related, we excluded all convictions up to 2 years before and 2 years after the diagnosis in a separate analysis. We also discriminated between persons diagnosed early and late in life, using the median age at diagnosis as cut-point.
From Statistics Denmark, we retrieved information regarding time of the following events, as previously described 18 : cohabitation with a partner, achievement of an education, fatherhood and retirement.
We retrieved all persons' marital and cohabitational status each 1st of January. Data were available from 1980 through 2007. The event was first change from being single to be cohabitating with a partner.
Data were category of education and dates for achieved education. An achieved bachelor degree or higher was considered ‘an education’. The event was first achieved bachelor degree for a person between 18 and 40 years.
All children born or adopted were registered from 1942 until 2007, with a linkage to both of their registered parents. Fatherhood was defined as the event of the first fathering of a child.
We defined retirement as due to age, sickness or voluntary choice. A person was considered retired, the first year payment was received due to retirement, regardless of a later return to the labour market.
The study protocol was approved by the Danish Data Protection Agency.
Kaplan–Meier estimates were constructed for time of first conviction. Time at risk started at age of 15 years or at start of registration, whichever came last, and ended at the date of first event, at the age of 70 years, at emigration/death or 31 December 2006, whichever came first.
HRs were calculated using stratified Cox proportional hazards regression, where each case and his matched controls were one stratum. For the analyses, time at risk started on the 15th birthday or 1 November 1978, whichever came last, and time at risk ended 1 July the year we registered an event for the first time, on the date of emigration, on the 70th birthday, on the date of death or 31 December 2006, whichever came first. For analyses before the diagnosis, time at risk ended no later than the date of diagnosis. For analyses after the diagnosis, time at risk started no earlier than the date of diagnosis.
For the analyses excluding all convictions 2 years before and after the diagnosis, all persons who had a first registration of a conviction of the relevant crime type during this period were excluded. We analysed convictions adjusted for cohabitation, education, fatherhood and retirement.
To examine a potential bias associated with undiagnosed KS and 47,XYY cases, we performed a sensitivity analysis, assuming that the risk of conviction among undiagnosed cases is smaller than the risk observed among diagnosed cases, and we applied the statistical uncertainty from the observed data expressed by the SE of the ln(HR) estimate.
All results are shown with 95% CI, and p<0.05 was considered statistically significant. We made no formal correction for multiple comparisons. We used Stata V.10.0 (Stata Corp.) for all calculations.
We identified 1049 persons with KS, whereof 934 were at risk of an event due to age between 15 and 70 years during the registration period; similarly, 208 persons with 47,XYY were identified, and 161 were at risk of an event. For details on both cohorts of index-persons and their controls, see table 1 .
Basic characteristics of persons with Klinefelter's syndrome (KS) or 47,XYY
Karyotype | No. of persons at risk | No. of persons with at least one conviction | Median age at diagnosis (95% CI) | Median year of diagnosis (95% CI) | Median year of birth (95% CI) |
47,XXY (KS) | 934 | 385 | 27.7 (26.6 to 28.3) | 1986 (1984 to 1987) | 1961 (1959 to 1962) |
Controls (KS) | 88 829 | 37 085 | – | – | – |
47,XYY | 161 | 80 | 20.6 (17.6 to 23.7) | 1985 (1982 to 1989) | 1969 (1963 to 1971) |
Controls (47,XYY) | 15 356 | 6284 | – | – | – |
The risk of any conviction was similar in persons with KS and controls with a HR of 0.95 (95% CI 0.86 to 1.05, p=0.28) but was increased to 1.40 (95% CI 1.23 to 1.59) when excluding traffic offenses ( table 2 ). Convictions of sexual abuse, burglary, arson and ‘other’ were moderately increased in persons with KS ( figures 1 and and2). 2 ). When excluding convictions within 2 years before and after the diagnosis, the HRs did not change substantially (supplemental figure 1). The HRs were significantly increased for convictions of sexual abuse, burglary and arson both before and after the KS diagnosis (supplemental table 1). The HRs were lower in the cohort diagnosed late in life (supplemental figure 2). Adjusting for socioeconomic parameters reduced the total HR (excluding traffic offenses) to a HR of 1.05 (95% CI 0.90 to 1.23) ( table 2 ), but it was still significantly increased in the subgroups sexual abuse and arson. The HR for convictions of traffic offenses was significantly decreased both before and after adjustment for socioeconomic parameters.
HRs (95% CI) for overall cause-specific convictions without and with adjustment for education, retirement, cohabitation and fatherhood in men with KS and 47,XYY
Crude HR | HR with adjustment | |
KS | 1.40 (1.23 to 1.59) | 1.05 (0.90 to 1.23) |
Sexual abuse | 4.02 (2.71 to 5.95) | 2.74 (1.60 to 4.69) |
Homicide | 1.65 (0.23 to 11.90) | 4.49 (0.54 to 37.04) |
Violence | 1.26 (0.95 to 1.66) | 0.88 (0.62 to 1.26) |
Burglary | 1.59 (1.36 to 1.85) | 1.03 (0.86 to 1.29) |
Traffic | 0.76 (0.57 to 0.86) | 0.80 (0.69 to 0.93) |
Drug-related | 0.78 (0.52 to 1.17) | 0.34 (0.20 to 0.60) |
Arson | 7.35 (4.42 to 12.23) | 5.33 (2.67 to 10.63) |
‘Others’ | 1.21 (1.02 to 1.48) | 1.01 (0.81 to 1.26) |
47,XYY | 2.09 (1.61 to 2.71) | 1.04 (0.68 to 1.61) |
Sexual abuse | 11.79 (6.46 to 21.52) | 3.66 (1.06 to 12.59) |
Homicide | 10.36 (1.31 to 81.77) | NA |
Violence | 2.54 (1.57 to 4.11) | 1.16 (0.51 to 2.63) |
Burglary | 2.07 (1.47 to 2.91) | 0.93 (0.52 to 1.65) |
Traffic | 0.95 (0.72 to 1.26) | 0.89 (0.60 to 1.31) |
Drug-related | 1.74 (0.90 to 3.36) | 0.59 (0.19 to 1.85) |
Arson | 10.57 (3.76 to 29.76) | NA |
‘Others' | 1.89 (1.32 to 2.71) | 1.39 (0.82 to 2.37) |
KS, Klinefelter's syndrome; NA, a HR could not be computed due to lown.
Kaplan–Meier plot of proportion of persons convicted (excluding traffic offenses) for the first time in the background population (thin line) and in men with Klinefelter's syndrome (bold line). All were 15–70 years of age.
HRs of convictions due to cause in Klinefelter's syndrome (KS) compared to age-matched men (see the Materials and methods section for details). Actual numbers of offenders (KS/controls) are given in parentheses.
In total, the risk of convictions was moderately increased in persons with 47,XYY compared to controls (HR 1.42 (95% CI 1.14 to 1.77), p<0.005) and even more pronounced (HR 2.09 (95% CI 1.61 to 2.71), p<0.001) when excluding traffic offenses ( figure 3 and table 2 ). A significantly increased HR was identified for convictions of sexual abuse, homicide, violence, burglary, arson and ‘others’ ( figure 4 ). In none of the eight conviction groups did the estimate change substantially when excluding convictions 2 years before or after the diagnosis (supplemental figure 3). Before the diagnosis, the HRs were significantly increased for convictions of sexual abuse only, and there were no events among the persons with 47,XYY in homicides, drug-related convictions and the arson group (supplemental table 1). After the diagnosis, the HRs were significantly increased in all offense groups, except for the traffic offenses (data not shown). There were no significant differences between HRs for those diagnosed younger and older than the median age at diagnosis (supplemental figure 4). Adjusting for socioeconomic parameters reduced the total HR (excluding traffic offenses) to 1.04 (95% CI 0.68 to 1.61) ( table 2 ), and all other subgroup HRs but sexual abuse decreased.
Kaplan–Meier plot of proportion of persons convicted (excluding traffic offenses) for the first time in the background population (thin line) and in men with 47,XYY (bold line). All were 15–70 years of age.
HRs of convictions due to cause in 47,XYY syndrome compared to age-matched men (see the Materials and methods section for details). Actual numbers of offenders (47,XYY/controls) is given in parentheses.
This large study in persons with KS and 47,XYY covering all diagnosed individuals in Denmark demonstrates that persons with 47,XYY and KS are convicted of a number of specific offenses more frequently than the background population. The total number of convictions, however, was not increased in persons with KS, primarily due to a significantly decreased number of traffic-related convictions. The study also demonstrates that unfavourable socioeconomic conditions may be part of the explanation for the increased rate of convictions since adjustment for socioeconomic variables reduced the HR in both cohorts. We could also demonstrate an association between convictions and age at diagnosis in persons with KS, that is, the earlier the diagnosis had been made, the greater the likelihood of having been convicted of an offense.
Men with KS and 47,XYY are to a large extent diagnosed late or not diagnosed at all, 2 6 and we have previously estimated that only 25% of KS and 15% of 47,XYY get a diagnosis. The same pattern is seen in other countries. 19 20 Thus, the results of the present study apply to the studied cohort—in other words, patients with KS and 47,XYY seen in daily clinical practice, and risk estimates may therefore not be applicable to groups of yet undiagnosed men with sex chromosome trisomies or even patients from other countries. We are well aware that the results of the present study may stigmatise persons with KS and 47,XYY due to the over-representation of convictions of sexual abuse and arson. But instead of suppressing such data, we believe that they are pivotal in furthering the understanding of these syndromes.
We found a significantly increased cause-specific risk of convictions due to sexual abuse, burglary, arson and ‘others’ among men with 47,XYY and KS. Furthermore, the cause-specific risk of convictions due to homicide and violence was increased among persons with 47,XYY. We then studied the impact of socioeconomic factors by adjusting for level of education, fatherhood, retirement and cohabitation. This adjustment lead to reductions in most HR, and only the risk of convictions for sexual abuse and arson among persons with KS and only sexual abuse among persons with 47,XYY remained significantly elevated. Among persons with KS, we found a significantly decreased risk of traffic-related convictions.
In general, information about sexual function in men with sex chromosome aberrations is sparse. Schiavi et al 21 found that fewer men with 47,XYY, but not men with KS, were married, experienced greater sexual dissatisfaction in general, acknowledged unconventional sexual experiences compared to a control group and demonstrated a less masculine gender role. Furthermore, men with 47,XYY have been described as immature, having interpersonal and sexual difficulties. 22 Thus, men with KS and 47,XYY have been described with increased frequency of different or deviating sexual behaviour, although it is important to stress that only few and small studies have investigated this subject. In addition, an increased vulnerability to psychiatric disorders and deviant behaviour, 23–25 psychophysiological dysfunction 26 and increased levels of autism traits in KS 27 28 together with a lower educational level and poor socioeconomic status 18 may result in a increased susceptibility to commit a crime. We did not expect the finding of significantly increased risk of convictions for sexual abuse, and we believe this to be of considerable importance. The reason for the increased frequency of sexual abuse convictions is of course speculative but may be due to the previously described feeling of being sexually different, which may end up in misinterpreting sexual cues, or possibly frustration leading to socially and legally unacceptable ways of achieving sexual satisfaction. Further studies are needed to clarify whether early diagnosis, sex steroid treatment, psychological therapy or other initiatives may alter this finding.
Our findings of an increased frequency of convictions other than traffic offenses were not corroborated by the long-term follow-up study by Ratcliffe, 16 who only found increased criminality among persons with 47,XYY (n=19), but not among persons with KS (n=19), and that this increase primarily was due to minor offenses.
Previous reports have linked persons with KS with arson, 15 29 and a case report identified improvement on treatment for hypergonadotropic hypogonadism. 30 There have only been case reports of arson in men with 47,XYY. 14 31 We have no specific explanation as to why this specific tendency is present, but it is possible that some of the psychopathological traits mentioned above, especially for the KS group, may prove explanatory in future studies.
Previously, lower intelligence has been pointed out as a contributing factor to the increased criminal behaviour in men with 47,XYY. 14 Götz et al 14 investigated criminality and antisocial behaviour in unselected men with KS and 47,XYY and showed that men with 47,XYY were more likely to have a criminal record compared to controls and found this to be due to lower IQ (n=16). They found no increase in the number of criminal records among persons with KS compared with controls, possibly due to low power (n=13). 14 Witkin et al 7 found a significantly increased rate of criminality in 47,XYY (n=12) even after adjusting for social class and intelligence, while the crime rate among KS (n=16) after adjustment was similar to the background population.
We did find that the association between the crime rate (excluding traffic offenses) and either KS or 47,XYY was reduced when adjusting for socioeconomic variables, such as level of education, retirement, cohabitation and fatherhood. In other words, the increased risk of conviction among the cases may partly or fully be explained by disadvantageous socioeconomic conditions. However, although there may be a relationship between increased convictions and poor socioeconomic status in persons with sex chromosomal abnormal phenotype, the causal relationship cannot be established.
We matched the current large group of patients with approximately 100 controls for each case. We did not match on other variables, such as socioeconomic factors, since these factors could easily be causally involved in how the chromosome abnormality leads to a deviant pattern of criminality. Indeed, matching on socioeconomic factors would likely lead to overmatching—which ‘is potentially capable of biasing study results beyond any hope of repair’. 32 The current approach allowed us to use subsequent adjustments to clarify whether socioeconomic factors were involved, which they in fact turned out to be. We did correct for level of education, fatherhood, retirement and cohabitation, although it can be problematic to control for social factors, because the chromosome aberrations per se can be the very reason for social problems, while the reverse is not possible. In addition, social problems—marginalisation, lack of education, poverty, etc—can affect the risk of criminal behaviour and of being detected and convicted. In other words, social problems may be part of a chain of events and adjustment would therefore introduce confounding. However, having controlled for these factors, we found that the total HRs for being convicted decreased and were no longer statistically significant for either group. Being well aware of the deviant behaviour and learning difficulties present in both cohorts from a very young age, we hypothesise that these difficulties are part of the background for the identified increased number of convictions. We then performed a sensitivity analysis to examine a potential bias arising if the severity of the syndrome affects both the risk of conviction and the probability of being diagnosed. 33 In one analysis, we assumed that the excess hazard among undiagnosed cases was half the excess hazard seen among diagnosed cases, and we applied the statistical uncertainty from the observed data. In another similar analysis, we assumed that the excess hazard among undiagnosed cases was similar to that in the background population. For KS, we assumed that 25% of all cases had been diagnosed. In the sensitivity analyses, the HRs were reduced, but still significantly elevated for all convictions (excluding traffic offenses), and for sexual abuse, burglary and arson (supplementary table 2). For 47,XYY, we observed a similar pattern. Here, we assumed that 15% of all cases had been diagnosed. In the sensitivity analysis, the HRs were reduced, but still significantly elevated for all convictions (excluding traffic offenses), and for sexual abuse, violence, burglary and arson (supplementary table 2). In other words, it is highly likely that the crime rate would remain significantly increased in an entirely unbiased population of both KS and 47,XYY with complete diagnosis of all cases.
We identified an association between age at diagnosis and convictions in some groups in both cohorts. The findings of a more ‘normal’ number of convictions in persons with KS in those diagnosed when older than the median age of diagnosis might be explained by a less typical phenotype, both physical and, perhaps more importantly, cognitive phenotype. However, this finding was not present in the persons with 47,XYY. We find no reason to believe that a late diagnosis per se is positive. Due to the reported increased criminal problems, we undertook analyses excluding those convicted in close proximity to the diagnosis. We hereby intended to avoid detection bias by excluding those who were diagnosed due to a conviction and who may bias the results towards an increased number of convictions in the index-persons. As exclusion of such persons hardly changed the findings, we believe that this type of bias can be ignored. The drawback of this study is the lack of clinical information, including IQ level, treatment with sex steroids, number of persons with a driving license and access to a car and for instance psychiatric diagnoses. The advantages are the nationwide inclusion of all diagnosed men at risk with sex chromosome trisomies and the close matching of the controls.
We were not able to control for concomitant medicinal use. There are usually no known hormonal deficits among men with 47,XYY, while men with KS often receive testosterone substitution therapy due to hypergonadotrophic hypogonadism. It has been speculated that early testosterone substitution in KS 34 35 would partially attenuate the impact of the syndrome on intellectual functioning and possibly other factors, but this remains to be studied. Others have speculated that testosterone substitution therapy could cause psychological disturbances, such as aggressive behaviour and occasionally lead to violent crime, especially at supraphysiological doses, 36 although a placebo controlled study of androgen treatment in healthy young men showed no or minimal change in mood or behaviour. 37 38 We cannot fully exclude the possibility that the pattern of criminality among KS could be related to testosterone substitution therapy, while it seems unlikely that medicinal use among men with 47,XYY is related to criminality. We note that the pattern of criminality in 47,XYY, who have a normal testosterone production, was equal or higher than among KS, and furthermore that criminality among KS was elevated even before diagnosis and thus before commencement of supplementation with testosterone, making it unlikely that testosterone supplementation is causally involved in the excess criminality in KS. In addition, in many men with KS, conventional testosterone supplementation is often not sufficient, and many men with KS are also not compliant, at least not all the time, resulting in hypotestosteronemia, elevated luteinizing hormone and diseases, symptoms and signs related to hypogonadism. 39–41
In conclusion, this study on all diagnosed men with a sex chromosome trisomy in Denmark identified a significantly increased number of convictions, excluding traffic offenses, both in persons with KS and 47,XYY. When adjusting for socioeconomic factors, the adjusted risk was similar to controls for both cohorts. We interpret this as indicating that a main explanation of the increased risk of conviction is due to unfavourable living conditions associated with these syndromes. In both cohorts, we found a significantly increased number of convictions due to sexual offense and arson. Further studies are needed to identify whether these findings can be prevented by improved clinical care, including earlier diagnosis.
Acknowledgments.
KS had full access to all the data in the study, and KS and CHG take responsibility for the integrity of the data, the accuracy of the data analysis and the decision to publish.
To cite: Stochholm K, Bojesen A, Jensen AS, et al . Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study. BMJ Open 2012; 2 :e000650. doi: 10.1136/bmjopen-2011-000650
Contributors: KS, AB, SJ and CHG participated in the conception and design of the study. KS, AB, SJ, ASJ and CHG participated in the analysis and interpretation of data. KS and CHG drafted the article, and KS, AB, SJ, ASJ and CHG approved the final version to be published.
Funding: Funded by Central Region Denmark; Danish Ministry of Science, Technology and Innovation, grant number 1-45-72-7-07 ;; 271-09-0907 .
Competing interests: None.
Provenance and peer review: Not commissioned; externally peer reviewed.
Data sharing statement: There are no additional data from the present study available.
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A few studies have reported that the phenotype of XYY syndrome includes physical abnormalities such as tall stature and behavioral and psychiatric problems, such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) 4, 6). Learning difficulties and delayed language skills have been associated with XYY syndrome.
Key Clinical Message. 48, XYYY syndrome is a rare condition. A male with 32‐year‐old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome. In this patient, Semi‐Klinefelter characteristics such as tall stature, teeth dysmorphology, long length of fingers, partial deformity of the joints ...
The second is advances in the understanding of the phenotypic variability of XYY through biobank and deep phenotyping efforts. As the phenotypic spectrum of XYY syndrome continues to expand, families will face greater uncertainty when receiving this diagnosis.
1 Introduction. XYY syndrome, otherwise known as Jacobs syndrome or double Y syndrome, is a sex chromosome trisomy with an estimated prevalence of 1/1000 male births, although many cases probably go undetected due to the mild phenotype characterising these individuals (Bardsley et al. 2013; Berglund, Stochholm, and Gravholt 2020).The detection of this condition has been rising in the last ...
Early studies falsely associated XYY with violent crime 1965 Patricia Jacobs conducted a research study examining XYY males in institutional settings State Hospital in Scotland-high number of men with XYY Careful studies of XYY began in 1976 with Witkin et al Key Findings Since …
XYY syndrome is characterized by a variable neurodevelopmental phenotype, with features including developmental delays, cognitive impairments, and an increased risk for mental health conditions. There are two recent developments that have primarily motivated this review. The first is the increased use of non-invasive prenatal screening (NIPS), which will likely result in more individuals being ...
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [2] These may include being taller than average and an increased risk of learning disabilities. [1][2] The person is generally otherwise normal, including typical rates of fertility. [1]
In particular, many studies focused on the relationship between a 47,XYY karyotype, aggressiveness, and deviance. Boys with this genotype seemed to become a modern version of the reo nato (born criminal) of Cesare Lombroso (1876). These studies, however, never reached statistical significance and the interest waned in a few years.
The XYY syndrome is of particular interest since the extra Y chromosome seems to be related to personality traits and criminal behavior. A new case of XYY syndrome is presented and discussed with relation to the present knowledge of the syndrome.
Objective To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. Design Register-based cohort study comparing the incidence of convictions among men with KS and with 47,XYY with age- and calendar-matched samples of the general population. Crime was classified into eight types ...
Learn about XYY Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources and
Jacobs syndrome, also known as 47,XYY syndrome, is a rare genetic condition that occurs in about 1 out of 1000 male children; this condition belongs to a group of conditions known as "sex chromosome trisomies", with Klinefelter syndrome being the more common type.[1] This condition was initially discovered in the 1960s.[2] Early studies performed on institutionalized men found that 47,XYY ...
XYY syndrome first appeared in the medical literature in 1962, eight years before Royce published his book. A team of researchers from Roswell Park Medical Institute in Buffalo, N.Y., described the first XYY person on record, a 44-year-old man who had undergone genetic testing because one of his children had Down syndrome.
The XYY syndrome in children: A review Julian Kivowitz Child Psychiatry and Human Development (1972) Crimino-biologic study of patients with the XYY syndrome and Klinefelter's syndrome Takayuki Tsuboi
The XYY syndrome. Review with a case study. Can Psychiatr Assoc J. 1970 Aug;15 (4):389-97. doi: 10.1177/070674377001500408.
In this case, psychiatric aspects of 47, XYY syndrome is discussed in a male adolescent patient diagnosed with Attention Deficit Hyperactivity Disorder (ADHD), conduct disorder (CD), mild ...
The aim of this study is to evaluate the pregnancy outcomes of males with a 47, XYY karyotype following assisted reproductive treatment.A retrospective study was performed using data from infertile men with 47, XYY at a center for reproductive medicine ...
A retrospective study was performed using data from infertile men with 47, XYY at a center for reproductive medicine in 2004 to 2017. Of the 19,842 infertile males treated, a total of 21 showed the 47, XYY karyotype and were included in the present study. Clinical variables were collected. Three men were under treatment with their partner before either in vitro fertilization (IVF) or ...
What causes XYY syndrome? XYY syndrome is the result of a random mix-up, or mutation, during the creation of a male's genetic code. Most cases of XYY syndrome are not inherited.
The XYY Controversy. This historical case study discusses how a paper published in 1961 that purported to link men with XYY chromosomes to being predisposed to violent and criminal behavior. The case discusses issues related to genetic screening and other applications of genetics and biotechnology research. This is one of six cases from Michael ...
To assess global and regional brain matter variations associated with XYY syndrome by comparison with Klinefelter syndrome and typical development.We used two conceptually distinct voxel-based magnetic resonance imaging methods to examine brain structure ...
Introduction. Triple X syndrome is a relatively common sex chromosome aneuploidy (SCA) characterized by the presence of a supernumerary X chromosome, resulting in a karyotype of 47,XXX in affected females, and has an estimated incidence of about one in 1,000 female newborns (Otter et al. 2010). 47,XXX is not typically associated with facial dysmorphology or distinct physical features and the ...
To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population.Register-based cohort study comparing the incidence of convictions among ...