Library - The Association for X and Y Chromosome Variations

BMJ Best Practice – Klinefelter Syndrome

Article Title: BMJ Best Practice Klinefelter Syndrome

Authors: Alan Rogol, Gary Butler, and Claus Gravholt

Date of Publication: June 4, 2024

“Population mortality and morbidity studies suggest there is a slight but not significant lowering of life expectancy in individuals with Klinefelter syndrome (KS). The average lifespan has been found to be reduced by 1.5 to 2 years, with morbidity and mortality increased due to a wide number of conditions, including diabetes, cerebrovascular disease, and breast cancer. Higher rates of osteoporosis and fractures are also important to note.

Appropriate treatment with testosterone can alleviate the portion of excess risk that is due to conditions associated with hypergonadotropic hypogonadism, but some of the elevated risk is likely intrinsic to the chromosome aberration and therefore not corrected by testosterone treatment.

The increased morbidity and mortality in individuals with KS may also be partially explained by their often lower socioeconomic status, with cohort data suggesting shorter education, higher rates of unemployment, lower average incomes, and earlier average age at retirement compared with men without KS.

It is important to note that most boys and men with KS are never diagnosed so the reported data likely reflects more severe phenotypes of the condition.”

Rick Frith2024-06-20T14:47:40-04:00Categories: 47,XXY (Klinefelter)|Tags: Comorbidity, Fertility, Genetic testing, Gynecomastia, Hypogonadism, prenatal, Testosterone treatment|

Evidence-based recommendations for delivering the diagnosis of X&Y chromosome multisomies

Article Title: Evidence-based recommendations for delivering the diagnosis of X&Y chromosome multisomies in children, adolescents, and young adults: an integrative review

Authors: Riggan, Ormond, Allyse, and Close

Date of Publication: April 22, 2024

“Patient experiences suggest there should be heightened attention to diagnosis delivery, in reference to the broader ethical and social impacts of a SCM diagnosis. We present recommendations for optimal disclosure of a SCM diagnosis in early and late childhood, adolescence, and young adulthood.”

Rick Frith2024-05-03T14:34:44-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY|Tags: Diagnosis delivery|

Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure

Article Title: Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure

Authors: Foland-Ross, Ghasemi, Lozano Wun, Aye, Kowal, Ross, and Reiss

Date of Publication: August 18, 2023

“These findings indicate a neural basis for executive dysfunction in KS and suggest alterations in pubertal development may contribute to increased severity of this cognitive weakness. Future studies that examine whether these patterns change with testosterone replacement therapy are warranted.”

Rick Frith2023-11-29T12:03:35-05:00Categories: 47,XXY (Klinefelter)|Tags: Executive Function, Neurodevelopment|

Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX

Article title: Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX

Author: Alan D. Rogol

Date of Publication: August 1, 2023

“Assisted reproductive technology, especially micro-testicular sperm extraction, has an important role, especially for those with 47,XXY; however, more recent data show promising techniques for the in vitro maturation of spermatogonial stem cells and 3D organoids in culture. Assisted reproductive technology is more complex for the female, but vitrification of oocytes has shown promising advances.”

Rick Frith2023-11-21T16:09:37-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, Mosaicism|Tags: Assisted Reproductive Technology, Fertility, In Vitro|

Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review

Article Title: Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review

Authors: Ricciardi, Cammisa, Bove, Picchiotti, Spaziani, Isidori, Aceti, Giacchetti, Romani, and Sogos

Date of Publication: November 9, 2022

“Our study aimed to analyse the neurocognitive, linguistic and behavioural profile of patients affected by supernumerary SCAs, specifically tetrasomy and pentasomy. We investigated the verbal abilities, both expressive and receptive, as well as the metalinguistic comprehension and attentive skills
of these patients.”

Rick Frith2023-11-16T13:25:08-05:00Categories: 48,XXXY, 48,XXYY, Other Variations|Tags: Neurodevelopment, Neuropsychology|

The emotional journey of adapting to prenatally identified trisomy X

Article Title: The emotional journey of adapting to prenatally identified trisomy X

Authors: Thompson, Tisher, Davis, Miller, Kirk, Tartaglia, and Howell

Date of Publication: August 19, 2023

“Results suggest providers should carefully consider word choice and timing in delivery of diagnosis, and genetic counseling should provide expectant parents with current research specific to trisomy X, facilitate connections with other parents of young girls with trisomy X, introduce developmental monitoring approaches, and be prepared to support families with a range of emotional responses to the diagnosis and decisions regarding disclosure.”

Rick Frith2023-09-12T14:38:29-04:00Categories: 47,XXX (trisomy x)|Tags: Genetic counseling, NIPS, NIPT, prenatal|

Sex Chromosome Dosage Effects on White Matter

Article Title: Sex Chromosome Dosage Effects on White Matter

Authors: Warling, Yavi, Clasen, Blumenthal, Lalonde, Raznahan, and Liu

Date of Publication: June 12, 2021

“These findings represent the most complete maps of X- and Y-chromosome effects on human white matter to date, and show how such changes connect to psychopathological symptoms and gray matter anatomy.”

Rick Frith2023-09-05T14:53:57-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY, Other Variations|Tags: Neuroimaging, White Matter|

Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

Article Title: Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

Authors: Howell, Buchanan, Davis, Miyazawa, Furuta, Tartaglia, and Nguyen

Date of Publication: September 9, 2021

“The findings of this chart review demonstrate the importance for the community affected by SCA conditions to have an increased awareness of the variable presentations of eosinophilic esophagitis (including coping strategies), especially among different age groups and in the context of neurodevelopmental problems, the need for specific screening for EoE symptoms, and referral to GI for evaluation and treatment. Such clinical knowledge and action can facilitate diagnosing EoE as early as possible and improve quality of life, symptom management, and limit progression of severity for patients.”

Rick Frith2023-09-05T14:41:27-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, Mosaicism|Tags: Eosinophilic Esophagitis|

Quality of life in men with Klinefelter Syndrome – a multicentre study

Article Title: Quality of life in men with Klinefelter Syndrome – a multicentre study

Authors: Franik, Fleischer, Kortmann, Stikkelbroek, D’Hauwers, Bouvattier, Slowikowska-Hilczer, Grunenwald, Van de Grift, Cartault, Richter-Unruh, Reisch, Thyen, IntHout, and Claahsen-van der Grinten

Date of Publication: August 14, 2023

“Overall QOL in European men with KS is significantly worse compared to a healthy European reference population. Especially the presence of discrimination, less social activities and chronic health problems is associated with lower physical, psychological and social QOL. Further studies are necessary to investigate if a multidisciplinary approach may help to provide adequate counseling and psycho-social support to improve quality of life.”

Rick Frith2023-08-17T14:27:58-04:00Categories: 47,XXY (Klinefelter)|Tags: Quality of life|

Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

Article Title: Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

Authors: Berry, Finucane, Myers, Abril, Kirchner, Ledbetter, Martin, and Oetjens

Date of Publication: January 17, 2023

“Adults with supernumerary sex chromosome aneuploidies compared with 2 sex chromosomes had a small but statistically significant increased risk of VTE. Further research is needed to understand the clinical implications of this association.”

Rick Frith2023-05-23T14:23:18-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|