Persistence of foetal testicular features in patients with defective androgen signalling
Authors' conclusion
Androgen signalling may affect the differentiation of adults, but possibly not foetal SCs or LCs, and may induce a shift of testosterone production from the tubular compartment in the foetal phase to the interstitial compartment in the adult phase.
Study context
- Population
- 46,XY individuals with defects in androgen synthesis or action; gonadal tissue sections
- Participants
- 4 / 1 / 1
- Comparison
- Complete androgen insensitivity syndrome (CAIS) vs CYP17A1 deficiency vs Control
- CAISn = 4
- CYP17A1 deficiencyn = 1
- Controln = 1reference
- Outcome
- LC developmental and steroidogenic markers in patients' gonadal tissue
Methodological detailsimmunostaining, reanalysis of published single-cell RNA sequencing (scRNA-seq) data
- Immunostaining
- Reanalysis of published scRNA-seq data
Main finding
As reported in the abstract
- All patients' gonadal tissues show exclusive expression of HSD17B3 in Sertoli cells (SCs)
- Expression of foetal/immature LC marker DLK1 in a subset of Leydig cells (LCs), suggesting an androgen-dependent differentiation defect of adult SCs and LCs
Further findings
HSD17B3 expression in normal human testis (scRNA-seq reanalysis)
- HSD17B3 expressed in foetal and neonatal SCs, downregulated in adult SCs
Original publication
Persistence of foetal testicular features in patients with defective androgen signalling. Eur J Endocrinol. Published 31 January 2023. doi:10.
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