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Production of testosterone by Leydig cells promotes development of the mesonephric or Wolffian ducts, which develop into the epididymis, vas deferens, and seminal vesicles.
Furthermore, it was found to be absent or dysfunctional in individuals with female phenotype and 46, XY karyotype.
At the embryonic age of 41 days, expression of the gene gene signals a cascade of events that result in the development of Sertoli cells.
Sertoli cells secrete anti-Müllerian hormone (AMH), which causes regression of the paramesonephric or Müllerian ducts.
The genital tubercle becomes the corpora cavernosa of the penis or the clitoris.
The labio-scrotal swellings develop into either the scrotum or the labia majora.
Given that SOX9 has multiple functions in different tissues during embryogenesis, it is not surprising that its regulatory regions are complex.