De la Chapelle syndrome results in an XX male. In 80% of cases, the reason is the translocation event that caused the SRY gene on the tip of the Y gene to be translocated onto the Dad?s X chromosome during meiosis. Explain why this mutation would lead to female development instead of male.

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Genital ridge Sf1 Wt1 Lhx9 Gata4 Bipotential gonad ß-catenin Rspol Wnt4 XX XY Sry Sox9 OVARY TESTIS Granulosa cells Thecal cells Sertoli Sf1 cells -Leydig cells Sf1 Female internal genitalia (uterus, oviducts, cervix, upper vagina) → Follicles Estrogen AMH -Testosterone Wolffian duct Male internal genitalia (epididymis, vas deferens, seminal vesicle) Female external genitalia (labia, clitoris, lower vagina) Müllerian duct Regression DHT Genital tubercle, urogenital sinus Penis, prostate, scrotum Genital ridge Sf1 Wt1 Lhx9 Gata4 Bipotential gonad ß-catenin Rspol Wnt4 XX XY Sry Sox9 OVARY TESTIS Granulosa cells Thecal cells Sertoli Sf1 cells -Leydig cells Sf1 Female internal genitalia (uterus, oviducts, cervix, upper vagina) → Follicles Estrogen AMH -Testosterone Wolffian duct Male internal genitalia (epididymis, vas deferens, seminal vesicle) Female external genitalia (labia, clitoris, lower vagina) Müllerian duct Regression DHT Genital tubercle, urogenital sinus Penis, prostate, scrotum

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