ATI Pediatrics Practice Questions Related

Review ATI Pediatrics Practice Questions related questions and content

A newborn girl appears with ambiguous genitalia and a 46,XX karyotype. Labs reveal elevated 17-hydroxyprogesterone. Most likely diagnosis is:

  • A. Congenital adrenal hyperplasia
  • B. Androgen insensitivity syndrome
  • C. Gonadal dysgenesis
  • D. 5-alpha reductase deficiency
Correct Answer: A

Rationale: CAH fits XX karyotype and elevated 17-OHP, per AAP (doc p149, Q574).