A Case of Testicular Regression Syndrome / 대한소아내분비학회지

ABSTRACT

Testicular regression syndrome may be better known as vanishing testis syndrome to physicians. Such individuals are genetically male(46,XY), presenting with unilateral or bilateral absence of recognizable testis structures and absence of the Mullerian duct system. There is a wide spectrum of phenotypes depending on the stage of male embryogenesis at which testicular function ceased. We experienced a case of testicular regression syndrome presenting labial fusion at birth and report with the brief review of related literature.