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Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome
Helena Fabbri-Scallet1,2, Verónica Calonga-Solís3, Gil Guerra-Júnior4,5
1Center for Molecular Biology and Genetic Engineering, State University of Campinas, São Paulo, Brazil. hfs@unicamp.br.
Scientific Reports
|February 13, 2026
Summary
Differences of sex development (DSD) involve atypical sex characteristics. This study reveals DSD gonads exhibit intermediate gene expression, not a binary male or female state, offering new insights into human sex development.
Area of Science:
- Genetics
- Developmental Biology
- Endocrinology
Background:
- Differences of sex development (DSD) are complex conditions affecting sexual development.
- Genetic factors in DSD are well-studied, but gonadal transcriptional programs are not.
- Understanding gonadal differentiation in DSD is crucial for diagnosis and treatment.
Purpose of the Study:
- To investigate the transcriptional landscape of gonadal tissue in individuals with DSD.
- To compare gene expression patterns in DSD gonads with typical male and female development.
- To elucidate the molecular basis of gonadal identity in DSD.
Main Methods:
- Transcriptome profiling of gonadal tissue from 11 DSD individuals.
- Comparison with developmental stage-matched control samples from public datasets.
- Dimensionality reduction analysis using sex-differentiation genes.
Main Results:
- DSD samples displayed intermediate transcriptional profiles, not aligning with typical male or female patterns.
- Gene expression varied, showing degrees of masculinization or feminization irrespective of chromosomal sex.
- Key sex-determining genes were dysregulated, with reduced ovarian markers and altered testicular factors.
Conclusions:
- Gonadal identity in DSD is best described by a transcriptional continuum, not a binary model.
- This study provides the first direct gene expression analysis in DSD gonadal tissue.
- Findings offer novel molecular insights into the complexity of human sex development.
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