ArticleSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation2026
Ovarian-Specific FOXL2 Protein Expression in Testes from Patients with Complete Androgen Insensitivity Syndrome and Undescended Testes.
Article in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionThe transcription factors Forkhead box L2 (FOXL2) and SRY-box transcription factor 9 (SOX9), among others, are required for embryonic ovarian and testicular differentiation, respectively. In patients with complete androgen insensitivity syndrome (CAIS), the testes are usually undescended and may show histological changes similar to those sometimes seen in patients with undescended testes (UDT). The aim of this study was to explore the expression of FOXL2 and SOX9 in testes from patients with CAIS and UDT.
methodsImmunohistochemical staining with FOXL2 and SOX9 was performed on samples from 13 patients with CAIS and 20 with UDT.
resultsIn addition to nuclear SOX9 expression in intratubular Sertoli cells, FOXL2 expression was present in stromal cells in 8 of 9 patients with CAIS and in 1 of 20 with UDT. Moreover, FOXL2 expression was found in the rete testis in three of nine samples that included this region.
conclusionExpression of the ovarian-specific marker FOXL2 in regions of the testes of patients with CAIS and UDT has not previously been documented and suggests partial activation of the female pathway within these testes. Further research is needed, including FOXL2 protein expression studies in larger series and molecular studies, e.g., transcriptome analysis, to understand the pathophysiology and clinical significance of these novel findings.
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