46,XX difference of sex development induced by exogenous maternal-derived androgen

46,XX difference of sex development (DSD) induced by exogenous maternal-derived androgen is a rare condition in which a baby who is genetically female (having two X chromosomes, or 46,XX) is born with genitals that appear more masculine or ambiguous. This happens because the baby was exposed to unusually high levels of male-type hormones (androgens) during pregnancy, and these hormones came from the mother rather than from the baby's own body. Sources of excess maternal androgens can include certain medications the mother took during pregnancy (such as some older forms of progesterone or anabolic steroids), or rarely, hormone-producing tumors in the mother such as an ovarian or adrenal tumor. The degree of genital changes in the baby can vary widely. Some babies may have only mild enlargement of the clitoris, while others may have more significant changes such as partial fusion of the labial folds or a urogenital sinus (where the urethra and vagina share a common opening). Importantly, the internal reproductive organs — the uterus, fallopian tubes, and ovaries — are typically completely normal because the androgen exposure only affects the external genitals during a specific window of fetal development. Once the source of excess androgen is removed (for example, the mother stops taking the medication or the tumor is treated), no further masculinization occurs after birth. Treatment depends on the degree of genital changes and may include surgical correction if needed, hormone monitoring, and psychological support. With appropriate care, individuals with this condition generally have normal fertility and a normal life expectancy. The condition is also sometimes referred to as maternal androgen-induced virilization of a 46,XX fetus or exogenous androgen-induced female pseudohermaphroditism, though the latter term is now considered outdated.

Bring these to your next appointment

• Q1.Has congenital adrenal hyperplasia been completely ruled out as a cause?,What was the likely source of the androgen exposure during pregnancy?,Are my child's internal reproductive organs (uterus, ovaries) completely normal?,Is surgery recommended, and if so, what are the risks and benefits of operating now versus waiting?,Will my child go through normal puberty and have normal fertility?,Can you refer us to a psychologist experienced with differences of sex development?,Are there support groups or other families we can connect with?

Common questions about 46,XX difference of sex development induced by exogenous maternal-derived androgen

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