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

46,XX difference of sex development (DSD) induced by endogenous maternal-derived androgen is a rare condition in which a baby who is genetically female (having two X chromosomes, or 46,XX) is exposed to unusually high levels of male hormones (androgens) while developing in the womb. These androgens come from the mother's own body rather than from an outside source. Common maternal causes include androgen-producing tumors of the ovary (such as luteomas or Krukenberg tumors), poorly controlled conditions like polycystic ovary syndrome, or rarely other hormone-producing growths that arise during pregnancy. Because the developing baby is exposed to excess androgens during critical stages of genital formation, the baby may be born with external genitalia that appear more masculine or ambiguous, even though the internal reproductive organs (uterus, ovaries, fallopian tubes) are typically female and normal. The degree of genital changes can range from mild clitoral enlargement to more significant ambiguity that makes it difficult to determine the baby's sex at birth. The good news is that once the baby is no longer exposed to the mother's excess androgens after delivery, the condition does not progress. In many cases, the masculinization of the genitalia may partially resolve on its own over time. Treatment focuses on identifying and addressing the source of excess androgens in the mother, careful evaluation of the baby's anatomy, and, when needed, surgical or hormonal management. A multidisciplinary team including endocrinologists, geneticists, urologists, and psychologists typically guides care. This condition is distinct from congenital adrenal hyperplasia (CAH), which is the most common cause of 46,XX DSD and arises from the baby's own adrenal glands.

Bring these to your next appointment

• Q1.What was the source of the excess androgens during pregnancy, and has it been treated in the mother?,How significant is the genital difference in my child, and will it change over time on its own?,Is surgery recommended, and if so, what are the risks, benefits, and timing?,Has congenital adrenal hyperplasia been fully ruled out?,Will my child go through normal female puberty and have normal fertility?,What psychological support services are available for our family?,Is there any risk of this happening again in a future pregnancy?

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

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