The role of certain key genes that could be implicated in abnormal sexual differentiation is known, but the complexity and heterogeneous nature of this syndrome leaves many questions unanswered.
The basis of therapy is testosterone supplementation at an early stage.
De La Chapelle, also known as XX Male syndrome is a rare cause of male infertility. Testis Determining Factor (TDF), located on the short arm of the Y chromosome, is responsible for testicular development in males.
Sertoli cells secrete Müllerian Inhibiting Factor which is responsible for the agenesis of Müllerian structures.
SRY-negative cases present at birth with features such as hypospadias and cryptorchidism.