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Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.
JAMA Netw Open
March 2024
Center for Behavioral Genetics of Aging, School of Medicine, University of California San Diego, La Jolla.
Article Synopsis
- The study focuses on the prevalence and health outcomes of men with 47,XXY and 47,XYY syndromes, two types of sex chromosome aneuploidies often associated with tall stature and poor health-related quality of life.
- Conducted within the Million Veteran Program, it aims to identify both diagnosed and undiagnosed cases, analyze their military service metrics, and compare their health outcomes to matched controls.
- Out of over 595,000 participants, the study found significant numbers of individuals with these syndromes, with higher prevalence in those of East Asian and European descent, while also tracking their health complications and mortality rates.
Article Synopsis
- The study examines the health implications and prevalence of 47,XXY and 47,XYY syndromes among men enrolled in the Million Veteran Program, focusing on their health-related quality of life (HRQoL) and military service metrics.
- It finds that a significant portion of these men remain undiagnosed, with 74% of those with 47,XXY and over 99% with 47,XYY not receiving clinical diagnoses despite their high prevalence.
- Results indicate that while individuals with these syndromes utilize healthcare more and have higher comorbidity scores, their mortality rates and military service histories are similar to matched controls without these aneuploidies.
Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX.
Endocr Connect
August 2023
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA.
The overall incidence of sex chromosome aneuploidies is approximately 1 per 500 live-born infants, but far more common at conception. I shall review the fertility aspects of the sex chromosome trisomies, XXY, XYY, and XXX, with special reference to the karyotype 45,X/47,XXX. Each has a 'specific' (but variable) phenotype but may be modified by mosaicism.
View Article and Find Full Text PDFApparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility.
J Reprod Infertil
January 2022
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the additional Y chromosome may cause disrupted meiosis leading to sperm apoptosis. The purpose of the current study was to determine whether XYY men are over-represented in infertility cohorts.
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