discussion-presentation31

• Approximately 1 in every 4500 babies has atypical (ambiguous) genitalia
• DSDs can present in many other ways, such as karyotype-phenotype discordance prenatally; bilateral hernia or associated syndromic features (e.g., renal) in childhood; virilization,absent puberty, or primary amenorrhea in teenage years;or even later in life with infertility.
• Majority of virilized 46,XX infants will prove to have congenital adrenal hyperplasia (CAH) but only 50% of 46,XY individuals will receive a specific diagnosis.
• A specific molecular diagnosis is only possible in 20% of cases.