biostudies-literatureUnknown25(1)Shi JWThis study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epitheAsian journal of andrology103-112https://www.ebi.ac.uk/biostudies/studies/S-EPMC9933965biostudies-literatureEpididymis cell atlas in a patient with a sex development disorder and a novel <i>NR5A1</i> gene mutation.PMC9933965Lin HCQiao FChen YFJiang HXie GCTian JWChen HZhou YWYe MLiu YShi JWZhang MYFok KLfalseEpididymis cell atlas in a patient with a sex development disorder and a novel <i>NR5A1</i> gene mutation.This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithe2023-01-01T00:00:00Z2023 Jan-Feb2025-08-24T03:08:28.509Z2024-11-06T12:49:27.207ZS-EPMC99339653554628610.4103/aja202226