The 47,XYY syndrome, 50 years of certainties and doubts: A systematic review

Re, Laura; Birkhoff, Jutta Maria

doi:10.1016/j.avb.2015.02.003

Cited by 20 publications

(9 citation statements)

References 123 publications

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“…A considerably low frequency of 47,XYY syndrome (1%) was detected among the patients in this study, which is in accordance with Kim et al (1999). Although the prevalence of XYY males in newborns is similar to XXY (KS), they are often unidentified and may never receive medical attention because XYY syndrome frequently is not associated with distinct clinical or cognitive impairments (Re and Birkhoff, 2015). However, some XYY patients were reported to have different clinical and social features including macrocephaly, macroorchidism, hypotonia, hypertelorism and attention deficit hyperactivity disorder (ADHD) (Bardsley et al, 2013).…”

Section: Referral Reasonsupporting

confidence: 78%

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Al-Alawi

Goud

Al-Harasi

et al. 2016

Reproductive BioMedicine Online

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The aim of this study was to evaluate cytogenetic findings in Omani patients who had been referred for suspicion of sex chromosome abnormalities that resulted in different clinical disorders. Furthermore, it sought to examine the frequency of chromosomal anomalies in these patients and to compare the obtained results with those reported elsewhere. Cytogenetic analysis was performed on 1232 cases with variant characteristics of sexual development disorders who had been referred to the cytogenetic department, National Genetic Centre, Ministry of Health, from different hospitals in the Sultanate of Oman between 1999 and 2014. The karyotype results demonstrated chromosomal anomalies in 24.2% of the cases, where 67.5% of abnormalities were identified in referral females, whereas only 32.6% were in referral males. Of all sex chromosome anomalies detected, Turner syndrome was the most frequent (38.2%) followed by Klinefelter syndrome (24.9%) and XY phenotypic females (16%). XXX syndrome and XX phenotypic males represented 6.8% and 3.8% of all sex chromosome anomalies, respectively. Cytogenetic analysis of patients referred with various clinical suspicions of chromosomal abnormalities revealed a high rate of chromosomal anomalies. This is the first broad cytogenetic study reporting combined frequencies of sex chromosome anomalies in sex development disorders in Oman.

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Section: Referral Reasonsupporting

confidence: 78%

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Al-Alawi

Goud

Al-Harasi

et al. 2016

Reproductive BioMedicine Online

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“…Second, we use 67 different dimensional variables to provide a more comprehensive and detailed picture of psychopathology than that offered by diagnostic status alone. Ranking these scales by score recapitulates prior findings that XYY syndrome is most impactful on attentional and social domains (18,44), and further refutes the already debunked but sadly tenacious association between carriage of an extra Y-chromosome and violent behavior (8). Our screen of multiple dimensions also indicated that the most severely scored symptom domains in XYY syndrome were not necessarily those that were most strongly associated with cognitive ability, adaptive functioning or caregiver strain.…”

Section: Discussionsupporting

confidence: 79%

“…We illustrate these generalizable approaches through initial application to XYY syndrome. XYY syndrome is a historically stigmatized sex chromosome aneuploidy (8)(9)(10) that remains poorly characterized despite affecting 1 out of every 1000 males (11,12), substantially increasing risk for a range of behavioral and emotional difficulties (13,14), and providing a naturally occurring model for Ychromosome effects on the human brain (15,16). To date, the nature of psychiatric risk in XYY syndrome has never been established using gold-standard interviewer-based diagnostic for use under a CC0 license.…”

Section: Introductionmentioning

confidence: 99%

Deep Phenotypic Analysis of Psychiatric Features in Genetically Defined Cohorts: Application to XYY Syndrome

Raznahan

Rau

Schaffer

et al. 2022

Preprint

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BackgroundRecurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome.MethodWe gathered high-dimensional measures of psychopathology in 64 XYY individuals and 60 XY controls, plus additional interviewer-based diagnostic data in the XYY group. We provide the first comprehensive diagnostic description of psychiatric morbidity in XYY syndrome and show how diagnostic morbidity relates to functioning, subthreshold symptoms, and ascertainment bias. We then map behavioral vulnerabilities and resilience across 67 behavioral dimensions before borrowing techniques from network science to resolve the mesoscale architecture of these dimensions and links to observable functional outcomes.ResultsCarriage of an extra Y-chromosome increases risk for diverse psychiatric diagnoses, with clinically impactful subthreshold symptomatology. Highest rates are seen for neurodevelopmental and affective disorders, and a lower-bound of <25% of carriers are free of any diagnosis. Dimensional analysis of 67 scales details the profile of psychopathology in XYY, which survives control for ascertainment bias, specifies attentional and social domains as the most impacted, and refutes stigmatizing historical associations between XYY and violence. Network modeling compresses all measured symptom scales into 8 modules with dissociable links to cognitive ability, adaptive function, and caregiver strain. Hub modules offer efficient proxies for the full symptom network.ConclusionThis study parses the complex behavioral phenotype of XYY syndrome by applying new and generalizable analytic approaches for analysis of deep-phenotypic psychiatric data in neurogenetic disorders.

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“…The evolution of this syndrome’s complexity and its multi-systemic involvement has resulted in greater understanding of the intimate relationship among hormonal development, neurodevelopmental performance, and health and well-being 9–12. Although these boys are not intellectually impaired, they often present with language-based learning difficulties, including deficits in expressive language, social language, and reading 3,12–14. Motor planning deficiencies contribute to delayed speech and language development, as well as significantly impacting on the development of balance and motor proficiency skills 15.…”

Section: Introductionmentioning

confidence: 99%

<p>Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)</p>

Samango‐Sprouse

Counts

Tran³

et al. 2019

TACG

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Abstract47,XXY (Klinefelter syndrome [KS]) is the most common sex chromosomal aneuploidy (1:660), yet, despite this, only 25% of the males are ever diagnosed. Males with 47,XXY present with characteristic symptoms throughout their lifetime with typical physical and neurodevelopmental manifestations focused in growth, cognitive development, endocrine function, and reproduction. Studies have demonstrated that optimal outcomes are dependent on early detection combined with consistent and targeted neurodevelopmental treatment throughout the lifespan. During infancy and into the preschool years, individuals with 47,XXY commonly face deficits in growth and development in the areas of early hormonal, motor, speech, and behavioral development. As they transition into school, the primary neurodevelopmental concerns include language difficulty, executive dysfunction, behavior, and learning and reading deficits. Adults with 47,XXY often present with taller than average height, low levels of fertility, azoospermia, and elevated gonadotropin levels. These presentations may persist from early childhood through adulthood but can be mitigated by appropriate interventions. Early neurodevelopmental and hormonal treatment has been shown to have a minimizing effect on the physical and neurodevelopmental manifestations in individuals with 47,XXY. With innovative and current research studies, the features common to the neurodevelopmental profile of 47,XXY have been further expanded and defined. Further research is necessary to elucidate and understand the relationship between the brain, behavior, and the phenotypic profile of 47,XXY.

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The 47,XYY syndrome, 50 years of certainties and doubts: A systematic review

Cited by 20 publications

References 123 publications

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Deep Phenotypic Analysis of Psychiatric Features in Genetically Defined Cohorts: Application to XYY Syndrome

<p>Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)</p>

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