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New Horizons in Klinefelter Syndrome: Current Evidence, Gaps, and Research Priorities

11 Feb 2025

Abstract excerpt

Klinefelter syndrome (KS) is caused by the presence of a supernumerary X chromosome (conferring the classical 47,XXY karyotype) and is the most common sex chromosome abnormality in men. The clinical features described in the early characterization of the syndrome include tall stature, small testes, hypogonadism, gynecomastia, and neurodevelopmental deficits. However, the syndrome presents a broad phenotypic...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 39932051
DOI: 10.1210/endrev/bnaf005

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