Gene expression and functional abnormalities in XX/Sry Leydig cells

Shogo Yanai, Takashi Baba, Kai Inui, Kanako Miyabayashi, Soyun Han, Miki Inoue, Fumiya Takahashi, Yoshiakira Kanai, Yasuyuki Ohkawa, Man Ho Choi, Ken ichirou Morohashi

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


The SRY gene induces testis development even in XX individuals. However, XX/Sry testes fail to produce mature sperm, due to the absence of Y chromosome carrying genes essential for spermatogenesis. XX/Sry Sertoli cells show abnormalities in the production of lactate and cholesterol required for germ cell development. Leydig cells are essential for male functions through testosterone production. However, whether XX/Sry adult Leydig cells (XX/Sry ALCs) function normally remains unclear. In this study, the transcriptomes from XY and XX/Sry ALCs demonstrated that immediate early and cholesterogenic gene expressions differed between these cells. Interestingly, cholesterogenic genes were upregulated in XX/Sry ALCs, although downregulated in XX/Sry Sertoli cells. Among the steroidogenic enzymes, CYP17A1 mediates steroid 17α-hydroxylation and 17,20-lyase reaction, necessary for testosterone production. In XX/Sry ALCs, the latter reaction was selectively decreased. The defects in XX/Sry ALCs, together with those in the germ and Sertoli cells, might explain the infertility of XX/Sry testes.

Original languageEnglish
Article number719
JournalScientific reports
Issue number1
Publication statusPublished - Dec 2021

All Science Journal Classification (ASJC) codes

  • General


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