Modeling Androgen Synthesis and Action During Human Sexual Differentiation

This study explored human sexual differentiation during the first trimester, focusing on androgen synthesis and action. It found that testicular testosterone biosynthesis in males was likely constitutively regulated, not by the anterior pituitary or placental hCG. The study also revealed that androgen receptor (AR) expression increased in male genitalia and was present in females, suggesting that AR bioactivity is part of normal female differentiation. This supports the idea that female sexual differentiation occurs in an androgenic environment, making it susceptible to conditions like congenital adrenal hyperplasia. Additionally, the research identified potential candidate genes for male under-virilisation syndromes, such as hypospadias.