Inguinal Hernia in a Phenotypic Female Infant May Reveal a 46XY Sex Reversal, Supported by the Identification of a Novel SF1 Gene Mutation

Testicular development from bipotential gonad and its descent to the scrotal sac are thought to be dependent on multiple genetic, hormonal, and environmental factors. Presumed inguinal hernia in a phenotypic female is a common presenting sign of 46XY disorder of sexual differentiation (DSD) in infancy and childhood. Although androgen insensitivity syndrome (AIS) is the most frequently identified cause, evaluation of other rare genetic disruptions like SF1 should be considered based on clinical and biological phenotypes.