What is a classic presentation of androgen insensitivity syndrome in adolescents?

Study for the USMLE Step 2 CK Exam. Prepare with flashcards and multiple choice questions, each question has hints and explanations. Get ready for your exam!

Androgen insensitivity syndrome (AIS) is a condition that occurs due to a mutation in the androgen receptor, which leads to a resistance to male hormones (androgens). Individuals with complete androgen insensitivity are genetically male (46,XY) but develop phenotypic female characteristics because their bodies are unable to respond to androgens.

A classic presentation of AIS in adolescents features primary amenorrhea coupled with breast development. This occurs because, despite the absence of a functional androgen receptor, the presence of estrogen (which is produced from the conversion of testosterone) leads to typical female secondary sexual characteristics, such as breast development. However, these individuals do not have a uterus or functional ovaries due to the lack of response to androgens during fetal development; as a result, they do not menstruate, which is why primary amenorrhea is observed.

Menorrhagia, uterine abnormalities, and excessive hair growth do not fit the classic presentation of AIS. Menorrhagia relates to heavy menstrual bleeding, which wouldn't apply to individuals with primary amenorrhea. Uterine abnormalities might suggest a different syndrome or problem affecting the development of the reproductive system. Excessive hair growth is often associated with conditions that involve elevated androgens

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