Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients

ABSTRACT

Background: A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions [e.g., salt-losing crisis in congenital adrenal hyperplasia [CAH]] and gender assignment. Sex assignment in these children continues to be a challenging diagnostic and therapeutic problem. We studied the causes and characteristics of ambiguous genitalia in children who were referred to a cytogenetic laboratory