Testis Molecular Pathways in Complete Androgen Insensitivity Syndrome (CAIS) Unveil Testosterone/Estradiol on Germ Cell Tumor Risk in Non-Obstructive Azoospermia
Authors' conclusion
This study offers molecular insights into the prediction of TGCC in persons with NOA and eligibility for the use of aromatase inhibitors.
Study context
- Population
- Testicular somatic cells of an individual with CAIS; testosterone and estradiol levels in age-matched men1 CAIS individual (scRNA-seq)
- Participants
- 120 / 155 / 116 / 18 / 343
- Comparison
- Testicular somatic cells in CAIS vs normal spermatogenesis, non-obstructive azoospermia (NOA), Klinefelter syndrome (KS) and germinal testicular cancer
- Fertilen = 120
- Infertilen = 155
- NOAn = 116
- KSn = 18
- Testicular germ cell cancer (TGCC)n = 343
- Outcome
- Leydig cell transcriptional profile
Methodological detailssingle-cell RNA sequencing, data integration with published scRNA-seq datasets
- Single-cell RNA sequencing
- Data integration with published scRNA-seq datasets
Main finding
As reported in the abstract
- In all conditions, Leydig cells are immature and senescent
- Leydig cells of NOA with primary hypogonadism show the highest expression of seminoma-microenvironment transcripts, including estrogen-responsive genes
- Decreasing testosterone/estradiol ratio has a prognostic role for TGCC in men with non-genetic NOA
Original publication
Testis Molecular Pathways in CAIS Unveil Testosterone/Estradiol on Germ Cell Tumor Risk in Non-Obstructive Azoospermia. J Clin Endocrinol Metab. Published 14 July 2025. doi:10.
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