Testicular function in boys with 47,<scp>XYY</scp> and relationship to phenotype

Davis, Shanlee; Bloy, Luke; Roberts, Timothy P. L.; Kowal, Karen; Alston, Amanda; Tahsin, Aysha; Truxon, Alyssa; Ross, Judith L.

doi:10.1002/ajmg.c.31790

Cited by 12 publications

(14 citation statements)

References 53 publications

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“…A consistent finding regarding the cognitive phenotype in children with XYY is the wide range in general intelligence (IQ) that trends toward the lower end of normal (Bardsley et al 2013;Berglund et al 2020b; S.M. Davis et al 2020b;Joseph et al 2018). While both verbal and nonverbal IQ are typically reported in the low-average range, verbal ability tends to be more severely impaired (S.M.…”

Section: Cognitivementioning

confidence: 97%

“…While both verbal and nonverbal IQ are typically reported in the low-average range, verbal ability tends to be more severely impaired (S.M. Davis et al 2020b ; Joseph et al 2018 ; Lee et al 2012 ). Individuals with XYY can also have reduced verbal comprehension, working memory, and processing speed, which are associated with increased difficulty maintaining attention and concentration that may result in challenges with other executive functions (Operto et al 2019 ).…”

Section: Neurodevelopmental Featuresmentioning

confidence: 99%

“…Parents also perceive their children as having greater difficulty in different psychosocial domains compared to how children perceive their challenges (S.M. Davis et al 2020b ). Together, these findings suggest that individuals with XYY may be adapting more positively to their condition than their parents.…”

Section: Individual and Family Experiences Of The Diagnostic Journeymentioning

confidence: 99%

“…Furthermore, most of the referenced studies include data obtained from parental report, which at times was shown to differ from what was reported by individuals with XYY (Bardsley et al 2013 ; S.M. Davis et al 2020b ). Future research should also focus on the experiences of individuals with XYY to gauge their understanding of the diagnosis and what their specific needs are.…”

Section: Areas For Future Researchmentioning

confidence: 99%

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Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

et al. 2023

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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 diagnosed with XYY prenatally. As such, health care providers (HCPs) both within genetics and outside of the specialty are more likely to encounter this diagnosis in the future. 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. Given both of these developments, HCPs will need to have up-to-date and accurate information about XYY to better counsel families. Furthermore, the ability to employ effective counseling techniques, such as anticipatory guidance, will aid in supporting and guiding families through the diagnostic journey. This review aims to provide insight on the neurodevelopmental and psychosocial aspects of XYY syndrome by discussing current research and borrowing from the relevant psychosocial literature of other genetic conditions. In this way, we hope to equip HCPs with the ultimate goal of improving the care and support provided to individuals with XYY and their families.

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Section: Cognitivementioning

confidence: 97%

Section: Neurodevelopmental Featuresmentioning

confidence: 99%

Section: Individual and Family Experiences Of The Diagnostic Journeymentioning

confidence: 99%

Section: Areas For Future Researchmentioning

confidence: 99%

See 2 more Smart Citations

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

et al. 2023

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“…Small testes, although most have normal-sized or even large testis, decreased spermatogenesis, spermatogenic arrest, subfertility, and sterility have been reported (59)(60)(61). It appears that XY pairing and recombination usually occur normally in 47,XYY, with the extra Y chromosome being lost during spermatogenesis (62,63), so that many 47,XYY men have fathered chromosomally normal children.…”

Section: Supernumerary Sex Chromosome Syndromes Fertility and Testicu...mentioning

confidence: 99%

New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY

Gravholt

Ferlin

Gromoll

et al. 2023

Endocrine Connections

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The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, 47, and XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research. We focus on the genetics and genomics of supernumerary sex chromosome syndromes with new data being presented. Most knowledge center specifically on Klinefelter syndrome, where aspects on testosterone deficiency and the relation to bone, muscle and fat was discussed, as was infertility and the treatment thereof. Both Trisomy X, 47 and XYY syndrome are frequently affected by infertility. Transitioning of males with Klinefelter syndrome was addressed, as this seemingly simple process is in practice often difficult. It is now realized that neurocognitive changes are pervasive in all supernumerary sex chromosome syndromes, which was extensively discussed. New intervention projects were also described and exciting new data concerning this was presented. Advocacy organizations were present, describing the enormous burden carried by parents when having to explain their child’s specific syndrome to most professionals whenever in contact with health care and education systems. It was also pointed out that most countries do not have health care systems that diagnose patients with supernumerary sex chromosome syndromes, thus pinpointing a clear deficiency in the current genetic testing and care models. At the end of the workshop a roadmap towards the development of new international clinical care guidelines for Klinefelter syndrome was decided.

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Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey

Thompson

Davis

Janusz

et al. 2022

Journal of School Psychology

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Testicular function in boys with 47,XYY and relationship to phenotype

Abstract: This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as

Cited by 12 publications

References 53 publications

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY

Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey

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