A 21-year-old woman presents with a 2-year history of progressive facial hirsutism, acne, and irregular menses occurring every 45-65 days. She denies medication use and reports no recent weight changes. Vital signs are normal. On examination, she has coarse dark hair on the face, chest, and lower abdomen; acne is present on the face and upper back. Pelvic ultrasound shows normal ovaries without cysts. Laboratory studies show: Sodium: 141 mEq/L Potassium: 4.2 mEq/L Fasting glucose: 97 mg/dL 17-hydroxyprogesterone: 390 ng/dL (normal 20-300) Testosterone: 91 ng/dL (normal 8-60) Cortisol (16:00 h): 2.8 μg/dL (normal 2-8) Prolactin: 14 ng/mL (normal <25) LH:FSH ratio: 2.1 (normal <2.5) Urine pregnancy test is negative. Which of the following pathophysiologic mechanisms best explains this patient's clinical presentation?

  1. A)Increased intra-adrenal conversion of precursors to androgens due to 21-hydroxylase deficiencyGABARITO
  2. B)Primary gonadal failure with secondary elevation of pituitary gonadotropins
  3. C)Prolactin-secreting pituitary microadenoma suppressing GnRH release
  4. D)Exogenous anabolic steroid abuse with suppressed endogenous testosterone
  5. E)Functional ovarian hyperandrogenism from increased ovarian LH receptor sensitivity

Explicação

This patient has classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, the most common form of CAH. The elevated 17-hydroxyprogesterone is the hallmark diagnostic finding—it is the substrate that accumulates proximal to the enzymatic b... Ver explicação completa e trilha adaptativa →

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