SOX3 and cryptorchidism: Arya et al. [17] reported five men diagnosed with congenital pituitary dysfunction and presented with micropenis or cryptorchidism, pituitary structural abnormalities or other cranial midline lesions, such as dysplasia of corpus callosum and absence of pellucidum, all of whom were found to have Xq27.1 duplications including SOX3. In addition, XX male sex reversal has been reported to be associated with deletion and duplication in the upstream region of SOX3 [34].