Ambiguous genitalia: Diagnosis, evaluation and treatment

ABSTRACT

The pediatric urologist plays a significant role in the evaluation and the treatment of infant with ambiguous genitalia. On the first day of life, an investigation should be initiated which includes studies, in particular chemical studies that are based on knowledge of enzymatic blockage hormonal studies, karyo-typing and imaging evaluation. Once gender assignment has been made, information regarding the size of the vagina and its position in regard to urogenital sinus become essential to the pediatric urologist when planning a course for reconstruction. Here in we breakdown intersex states into four major categories female pseudohermaphrodism; male pseudohermaphrodism without mullerian structures; male hermaphrodism with mullerian structures and true hermaphrodism. The role of the pediatric urologist in each of these states is discussed