Congenital bilateral anorchia: a study of 5 cases in Jordan

ABSTRACT

We report the clinical and hormonal findings in 5 cases of bilateral anorchism. Five male patients aged 3-5 years presented with suspected cryptorchidism. Physical examination, hormonal, imaging, chromosomal, and molecular analyses of these cases were performed. Ultrasonography of the pelvis and magnetic resonance of the abdomen were performed and failed to show any true testicular tissue or showed only atrophied suspicious testicular tissue. Chromosomal analysis revealed a normal male karyotype and molecular analysis did not reveal mutations or polymorphisms in the SRY gene. The basal FSH and LH levels were increased, and there were increase in response to gonadotropin-releasing hormone test, testosterone levels failed to increase after hCG administration. Lastly, surgical exploration confirmed the absence of testicular structure in three of them. Diagnostically, the very low anti Mullerian hormone level combined with the lack of testosterone response to hCG are the hormonal hallmarks of bilateral congenital anorchia