Clinical Characteristics of Patients Who Underwent Surgery for Genital Tract Malformations at Peking Union Medical College Hospital across 31 Years

Background：Female genital malformations represent miscellaneous deviations from normal anatomy.This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital （PUMCH） during a 31-year period.Methods：We retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period,analyzed the clinical characteristics of 1634 hospitalized patients,and investigated their general condition,diagnosis,and treatment process.Results：The average patient age was 27.6 ± 9.9 years.The average ages of patients who underwent surgery for uterine malformation and vaginal malformation were 31.9 ± 8.8 years and 24.7 ± 9.0 years,respectively;these ages differed significantly （P 〈 0.01）.Among patients with genital tract malformation,the percentages of vaginal malformation,uterine malformation,vulva malformation,cervical malformation,and other malformations were 43.9%,43.5%,7.4%,2.3%,and 2.8%,respectively.Among patients with uterine malformation,34.5% underwent surgery for the genital tract malformation,whereas in patients with vaginal malformation,the proportion is 70.6%;the difference between the two groups was statistically significant （P 〈 0.01）.The percentage of complications of the urinary system in patients with vaginal malformations was 10.2%,which was statistically significantly higher than that （5.3%） in patients with uterine malformations （P 〈 0.01）.Conclusions：Compared to patients with uterine malformations,patients with vaginal malformations displayed more severe clinical symptoms,a younger surgical age,and a greater need for attention,early diagnosis,and treatment.Patients with genital tract malformations,particularly vaginal malformations,tend to have more complications of the urinary system and other malformations than patients with uterine malformations.

Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing

Background Congenital malformations of the female genital tract(CM-FGT)are characterized by abnormal development of the fallopian tubes,uterus,and vagina,often accompanied by malformations in the urinary system,bones and hearing.However,no definitive pathogenic genes and molecular genetic causes have been identified.Methods We present the largest whole-genome sequencing study of CM-FGT to date,analyzing 590 individuals in China:95 patients,442 case–controls,and 53 familial controls.Results Among the patients,5.3% carried known CM-FGT-related variants.Pedigree and case–control analyses in two dimensions of coding and non-coding regulatory regions revealed seven novel de novo copy number variations,12 rare single-nucleotide variations,and 10 rare 3'untranslated region(UTR)mutations in genes related to CM-FGT,particularly highlighting ASH1L as a pathogenic gene.Single-cell sequencing data showed that the majority of CM-FGT-related risk genes are spatiotemporally specifically expressed early in uterus development.Conclusions In conclusion,this study identified novel variants related to CM-FGT,particularly highlighting ASH1L as a pathogenic gene.The findings provide insights into the genetic variants underlying CM-FGT,with single-cell sequencing data revealing spatiotemporal specific expression patterns of key risk genes early in uterine development.This study significantly advances the understanding of CM-FGT etiology and genetic landscape,offering new opportunities for prenatal screening.