Fig. 2. Genetic pathway of human sex differentiation. The bipotential gonad may differentiate into the testis or ovary, depending on the delicately balanced expression of the genes involved in testicular and ovarian differentiation. SRY upregulates SOX9 and stimulates testis-specific pathways subsequently. In the absence of SRY, ovary-specific genes, such as WNT4 and RSPO1, stimulate downstream signaling pathways via β-catenin and FOXL2. SRY, sex-determining region Y; NR5A1, Nuclear receptor subfamily 5 group A member 1; AMH, anti-mullerian hormone.
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