Which complication is specifically associated with 21-hydroxylase deficiency in CAH?

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!

21-hydroxylase deficiency, a form of congenital adrenal hyperplasia (CAH), leads to a significant disruption in the steroid biosynthesis pathway, primarily affecting cortisol and aldosterone production. In individuals with this deficiency, there is an accumulation of steroid precursors like progesterone and 17-hydroxyprogesterone, which are then shunted towards the production of androgens.

In females, the excess androgens lead to virilization, which manifests as ambiguous genitalia at birth. This condition is particularly marked in female infants who are exposed to high levels of androgens in utero, resulting in genitalia that do not clearly conform to typical female anatomy. The presence of ambiguous genitalia is a direct consequence of the imbalanced hormone environment during critical periods of fetal development, making it a specific and characteristic complication associated with 21-hydroxylase deficiency.

The other choices relate to complications that may not be specifically tied to this deficiency in the same way. While gynecomastia and infertility can occur due to hormonal imbalances in different contexts, they are not unique features of 21-hydroxylase deficiency. Non-specific external genitalia is also not a direct result of the excess androgens

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