%0 Journal Article
%T X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome.
%A Winge SB
%A Skakkebaek NE
%A Aksglaede L
%A Saritaş G
%A Rajpert-De Meyts E
%A Goossens E
%A Juul A
%A Almstrup K
%J Cell Death Dis
%V 15
%N 6
%D 2024 Jun 5
%M 38839795
暂无%R 10.1038/s41419-024-06792-6
%X 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, while the spermatogonia expressed XIST despite having only one X-chromosome. XIST was expressed in Sertoli cells until puberty, where a gradual loss was observed. Our results suggest that a micro-mosaic loss of the additional X-chromosome is needed for Sertoli cells to mature and to allow focal spermatogenesis.