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The Klinefelter Syndrome
The Klinefelter syndrome (KS) is a syndrome characterized by the presence of at least one extra X chromosome in the chromosome set. In 85% of cases,...
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Genes and Pathways Underpinning Klinefelter Syndrome at Bulk and Single-Cell Levels
Klinefelter syndrome (KS) is the most frequent genetic anomaly in infertile men. Given its unclear mechanism, we aim to investigate critical genes...
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Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report
BackgroundHemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency...
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Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis
BackgroundKlinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous...
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Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?
Klinefelter syndrome (KS) is the most frequent sex chromosome aneuploidy in males. KS diagnosis disclosure has an important impact on diagnosis...
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Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
The article “Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis...
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The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood
Purpose47,XXY is associated with variable neurodevelopmental outcomes including deficits in expressive and receptive language development. Early...
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TLR8 escapes X chromosome inactivation in human monocytes and CD4+ T cells
BackgroundHuman endosomal Toll-like receptors TLR7 and TLR8 recognize self and non-self RNA ligands, and are important mediators of innate immunity...
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Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
Little is known about disclosure of diagnosis to males with Klinefelter syndrome (KS) diagnosed before birth or during childhood, especially in Asian...
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Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome
BackgroundKlinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall...
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Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome)
Turner and Klinefelter syndromes are the most common chromosome abnormalities compatible with life. Prader-Willi syndrome is a complex multisystem...
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Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
Sex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how adolescents and young adults...
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Cytogenomic description of a Mexican cohort with differences in sex development
BackgroundDifferences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex...
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In vitro spermatogenesis in artificial testis: current knowledge and clinical implications for male infertility
Men’s reproductive health exclusively depends on the appropriate maturation of certain germ cells known as sperm. Certain illnesses, such as...
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Genetic sex validation for sample tracking in next-generation sequencing clinical testing
ObjectiveData from DNA genoty** via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample...
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Sperm as a Possible Source of Transgenerational Epimutations and Genetic Instability
For the past 25 years, male infertility has been successfully treated with intracytoplasmic sperm injection (ICSI), while diagnosis and aetiology of...
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High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting
BackgroundThe most common sex chromosomal aneuploidy in males is Klinefelter syndrome, which is characterized by at least one supernumerary X...
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Testosterone deficiency promotes arterial stiffening independent of sex chromosome complement
BackgroundSex hormones and sex chromosomes play a vital role in cardiovascular disease. Testosterone plays a crucial role in men’s health. Lower...
