Medical and Surgical Treatment of Congenital Anomalies of Male Genital Tract

Abstract

Abnormalities of the external genitalia are documented in about 1:4500 infants. The aim of this chapter is to summarize the most frequent and most important male genitalia tract abnormalities as well as to review their possible medical and surgical approaches. The disorders of male sexual development (DSD) represent the most challenging clinical conditions. They include a wide spectrum of abnormalities ranging from a complete female phenotype to milder defects of androgenization. DSD molecular diagnosis is possible in no more than 20% of cases, and a limited number of patients arrive at a definitive diagnosis. The pathophysiology of milder defects such as isolated cryptorchidism, hypospadias, anorchia, and congenital penile curvature is even less known, although a combination of genetic and environmental underlying factor has been advocated. The presence of an experienced interdisciplinary team including endocrinologists, urologists, geneticists, and psychologists is crucial for the management of all congenital disorders of male genital tract and especially of DSD. In vast majority of cases, the newborn period after gender assignment represents the best period for the first surgical approach. However, the urologists play a crucial role during all lifespan by reviewing prior surgeries, by managing surgical complications, as well as by evaluating the possible need for future surgery. Pediatric endocrinologist is essential for allowing the development of sexual characteristics in line with individual sexual orientation.