2024
DOI: 10.1038/s41419-024-06792-6
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X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome

Sofia B. Winge,
Niels E. Skakkebaek,
Lise Aksglaede
et al.

Abstract: Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like Sertoli cells, and occasionally focal spermatogenesis. Here, we show that the immature-like Sertoli cells highly expressed XIST and had two X-chromosomes, while the mature Sertoli cells lacked XIST expression and had only one X-chromosome. Sertoli cells supporting focal spermatogenesis also lacked XIST expression and the additional X-chromosome, w… Show more

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