Article

Phenotypic and Fertility Variability in Klinefelter Syndrome: Evidence of Natural Fatherhood in Non-Mosaic 47,XXY Men and Rare 48,XXYY Cases

2025-11-19

Abstract excerpt

<title>Abstract</title> <p>Purpose Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy in males, characterised primarily by the 47,XXY karyotype. The syndrome exhibits significant clinical and genetic variability and can affect reproductive capacity. This study aims to investigate variability in phenotypic characteristics according to age group and karyotype, and to evaluate rare reproductive o...

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Literature Corpus work: ea40fae1-8cc0-5c11-96b4-c327463bfd30
DOI: 10.21203/rs.3.rs-8144683/v1

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